CNV Annotation

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{
  "pos": 122,
  "chromosome": "chr1",
  "length": 5113,
  "type": "deletion",
  "end": 5235,
  "publication_counts": null,
  "regions": {
    "tcag_dgv": {
      "version": "30-Jun-2021",
      "items": [
        {
          "dgvregionjson": {
            "accession": "nsv482937",
            "observations": {
              "observed_gains": 0,
              "observed_losses": 1,
              "samplesize": 39
            },
            "pubmedids": 15286789,
            "sv_type": "loss"
          },
          "absolute_positon": 0,
          "chromo": "chr1",
          "length": 2300000,
          "position": 1
        }
      ]
    }
  },
  "coding_gene_id": [],
  "coding_genes": null,
  "exon": null,
  "gene_symbol": null,
  "gene_id": null,
  "genes": [],
  "transcripts": [],
  "camouflaged_regions": [],
  "sv_acmg_annotation": {
    "verdict": {
      "saphetor_class": "Benign",
      "saphetor_score": -1.0,
      "verdict": "Benign",
      "approx_score": -1.6
    },
    "classifications": [
      {
        "saphetor_class": "Benign",
        "approx_score": 0.0,
        "acmg_class": "Uncertain Significance",
        "name": "Gene",
        "saphetor_score": -1.0,
        "saphetor_user_explain": {
          "Benign": [
            "This structural variant affects 0 coding genes."
          ]
        }
      },
      {
        "saphetor_score": 0.0,
        "saphetor_class": "Uncertain Significance",
        "approx_score": -0.6,
        "acmg_class": "Uncertain Significance",
        "name": "Content",
        "user_explain": {
          "Uncertain Significance": [
            "This structural variant doesn't affect any known domain or coding genes."
          ]
        }
      },
      {
        "saphetor_score": 0.0,
        "saphetor_class": "Uncertain Significance",
        "approx_score": 0.0,
        "acmg_class": "Uncertain Significance",
        "name": "Inheritance"
      },
      {
        "saphetor_score": 0.0,
        "saphetor_class": "Uncertain Significance",
        "approx_score": 0.0,
        "acmg_class": "Uncertain Significance",
        "name": "Literature"
      },
      {
        "saphetor_score": 0.0,
        "saphetor_class": "Uncertain Significance",
        "approx_score": -1.0,
        "acmg_class": "Benign",
        "name": "Overlap",
        "user_explain": {
          "Benign": [
            "Found 1 reported benign cnv reported by DGV."
          ]
        }
      }
    ],
    "sample_findings": {
      "mode_of_inheritance": "Assumed AD/AR."
    },
    "version_name": "13.3.0"
  },
  "deleted_data_reason": null,
  "cytobands": "1p36.33",
  "zygosity": null,
  "qscore": null
}