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Items: 17

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    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3918295copy number variation1nstd102humanPathogenic GRCh38 chr20: 54,594,888-58,190,583 , NCBI36 chr20: 52,644,834-56,199,045 , GRCh37 chr20: 53,211,427-56,765,639 CBLN4, MTRNR2L3, 59 more genes
    nsv3892750copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941 CBLN4, TGIF2-RAB5IF, 1314 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 CBLN4, LRRN4, 1313 more genes
    nsv3895314copy number variation2nstd102humanPathogenic GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202 CBLN4, PKIG, 1311 more genes
    nsv3896520copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110 CBLN4, COMMD7, 1311 more genes
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 CBLN4, MIR3646, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 CBLN4, FTLP1, 472 more genes
    nsv6112778copy number variation1nstd102humanPathogenic GRCh37 chr20: 51,799,648-62,916,626 , GRCh38.p12 chr20: 53,183,109-64,285,273 CBLN4, LINC01742, 253 more genes
    nsv4357849copy number variation1nstd102humanPathogenic GRCh37 chr20: 54,143,747-62,194,881 , GRCh38.p12 chr20: 55,568,689-63,563,528 CBLN4, RBM38, 192 more genes
    nsv3894116copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 51,542,616-62,915,555 , GRCh38.p12 chr20: 52,926,077-64,284,202 CBLN4, ATP5F1E, 254 more genes
    nsv3910223copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 51,286,111-62,385,999 , GRCh37 chr20: 51,852,704-62,915,555 , GRCh38 chr20: 53,236,165-64,284,202 CBLN4, ATP5F1E, 253 more genes
    nsv3912982copy number variation1nstd102humanLikely pathogenic NCBI36 chr20: 53,639,062-58,949,658 , GRCh37 chr20: 54,220,678-59,516,263 , GRCh38 chr20: 55,630,597-60,941,207 CBLN4, ATP5F1E, 103 more genes
    nsv6637537copy number variation1nstd102humanUncertain significance GRCh37 chr20: 54,239,671-54,804,644 , GRCh38.p12 chr20: 55,664,613-56,229,588 CBLN4, LOC105372678, 5 more genes
    nsv3910818copy number variation1nstd102humanUncertain significance NCBI36 chr20: 25,616,026-62,435,964 , GRCh37.p13 chr20: 25,668,026-62,965,520 , GRCh38.p12 chr20: 25,687,390-64,334,167 CBLN4, RNA5SP481, 855 more genes
    nsv7148186copy number variation1nstd102humanUncertain significance GRCh37 chr20: 52,773,668-62,965,020 , GRCh38.p12 chr20: 54,157,129-64,333,667 CBLN4, LOC105372717, 245 more genes
    nsv6637604copy number variation1nstd102humanUncertain significance GRCh37 chr20: 52,517,925-55,402,822 , GRCh38.p12 chr20: 53,901,386-56,827,766 CBLN4, DOK5, 34 more genes
    nsv3901084copy number variation1nstd102humanUncertain significance GRCh37 chr20: 54,541,125-55,162,415 , GRCh38.p12 chr20: 55,966,069-56,587,359 CBLN4, FAM209B, 13 more genes
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