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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3875818copy number variation1nstd102humanPathogenic GRCh38 chrX: 49,216,966-49,221,438 , GRCh37.p13 chrX|NW_004070880.2: 1,456,395-1,460,867 , GRCh37.p13 chrX: 49,073,426-49,077,897 CACNA1F
    nsv7098668copy number variation1nstd102humanPathogenic GRCh37 chrX: 49,074,194-49,077,559 , GRCh38.p12 chrX: 49,217,735-49,221,100 CACNA1F
    nsv5674183copy number variation1nstd102humanPathogenic GRCh37 chrX: 49,070,438-49,070,862 , GRCh38 chrX: 49,213,978-49,214,402 CACNA1F
    nsv3890113copy number variation1nstd102humanBenign GRCh37 chr12: 2,198,827-2,216,588 , GRCh38.p12 chr12|NW_018654718.1: 431,805-449,566 , GRCh38.p12 chr12: 2,089,661-2,107,422 CACNA1C
    nsv6309411copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,162,729-2,229,616 , GRCh38.p12 chr12: 2,053,563-2,120,450 , GRCh38.p12 chr12|NW_018654718.1: 395,707-462,594 CACNA1C
    nsv7148215copy number variation1nstd102humanUncertain significance GRCh38 chrX: 49,222,435-49,226,325 , GRCh37.p13 chrX|NW_004070880.2: 1,461,864-1,465,754 , GRCh37.p13 chrX: 49,078,894-49,082,787 CACNA1F
    nsv7095570copy number variation1nstd102humanUncertain significance GRCh37 chr1: 201,013,436-201,013,604 , GRCh38.p12 chr1: 201,044,308-201,044,476 CACNA1S
    nsv6311881copy number variation1nstd102humanUncertain significance GRCh37 chr3: 53,529,194-53,707,863 , GRCh38.p12 chr3: 53,495,167-53,673,836 CACNA1D
    nsv3899943copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,564,298-2,674,054 , GRCh38.p12 chr12: 2,455,132-2,564,888 , GRCh38.p12 chr12|NW_018654718.1: 803,248-913,004 CACNA1C
    nsv5380899copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,162,719-2,229,606 , GRCh38.p12 chr12|NW_018654718.1: 395,697-462,584 , GRCh38.p12 chr12: 2,053,553-2,120,440 CACNA1C
    nsv6309262copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,659,099-2,695,080 , GRCh38.p12 chr12: 2,549,933-2,585,914 , GRCh38.p12 chr12|NW_018654718.1: 898,049-934,030 CACNA1C
    nsv6309475copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,558,122-2,566,892 , GRCh38.p12 chr12: 2,448,956-2,457,726 , GRCh38.p12 chr12|NW_018654718.1: 797,072-805,842 CACNA1C
    nsv3887269copy number variation1nstd102humanUncertain significance GRCh37 chr12: 2,224,370-2,224,731 , GRCh38.p12 chr12|NW_018654718.1: 457,348-457,709 , GRCh38.p12 chr12: 2,115,204-2,115,565 CACNA1C
    nsv5381457copy number variation1nstd102humanUncertain significance GRCh37 chr7: 116,166,573-116,166,573 , GRCh38.p12 chr7: 116,526,519-116,526,519 CAV1
    nsv3917829copy number variation1nstd102humanPathogenic NCBI36 chr12: 2,666,339-2,712,594 , GRCh38 chr12: 2,686,912-2,733,167 , GRCh37 chr12: 2,796,078-2,842,333 CACNA1C-AS1, CACNA1C
    nsv6310773copy number variation1nstd102humanPathogenic GRCh37 chr1: 201,012,389-201,013,604 , GRCh38.p12 chr1: 201,043,261-201,044,476 LOC101929305, CACNA1S
    nsv6289840copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 2,153,318-2,198,036 , GRCh38.p12 chr12: 2,044,152-2,088,870 , GRCh38.p12 chr12|NW_018654718.1: 386,296-431,014 CACNA1C, CACNA1C-IT2
    nsv7098321copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 49,074,894-49,088,409 , GRCh38.p12 chrX: 49,218,435-49,231,947 CACNA1F, HSPB1P2
    nsv6314502complex chromosomal rearrangement2nstd102humanLikely pathogenic GRCh38.p12 chr12: 2,598,450-2,598,450 , GRCh38.p12 chr12: 2,598,468-2,598,468 , GRCh37 chr12: 2,707,634-2,707,634 , GRCh37 chr12: 2,707,616-2,707,616 , GRCh38.p12 chr1: 50,292,781-50,292,781 , GRCh38.p12 chr1: 50,292,788-50,292,788 , GRCh37 chr1: 50,758,453-50,758,453 , GRCh37 chr1: 50,758,460-50,758,460 , GRCh38.p12 chr12|NW_018654718.1: 946,566-946,566 , GRCh38.p12 chr12|NW_018654718.1: 946,584-946,584 CACNA1C, LINC02808
    nsv3891046copy number variation1nstd102humanBenign GRCh37 chr12: 2,198,588-2,255,327 , GRCh38.p12 chr12|NW_018654718.1: 431,566-488,305 , GRCh38.p12 chr12: 2,089,422-2,146,161 LOC107984131, CACNA1C
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