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Items: 1 to 20 of 228

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095570copy number variation1nstd102humanUncertain significance GRCh37 chr1: 201,013,436-201,013,604 , GRCh38.p12 chr1: 201,044,308-201,044,476 CACNA1S
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7054924inversion1nstd229human GRCh38 chr1: 201,085,752-201,085,853 , GRCh37.p13 chr1: 201,054,880-201,054,981 CACNA1S
    nsv7050962inversion1nstd229human GRCh38 chr1: 201,109,741-201,109,887 , GRCh37.p13 chr1: 201,078,869-201,079,015 CACNA1S
    nsv7048044inversion1nstd229human GRCh38 chr1: 200,722,696-202,712,068 , GRCh37.p13 chr1: 200,691,824-202,681,196 ARL8A, KIF21B, 52 more genes
    nsv7043770inversion1nstd229human GRCh38 chr1: 201,112,296-201,117,658 , GRCh37.p13 chr1: 201,081,424-201,086,786 CACNA1S, ASCL5
    nsv6677878copy number variation1nstd229human GRCh38 chr1: 200,974,330-201,208,004 , GRCh37.p13 chr1: 200,943,458-201,177,132 KIF21B, CACNA1S, 4 more genes
    nsv6676308copy number variation1nstd229human GRCh38 chr1: 200,829,910-201,044,780 , GRCh37.p13 chr1: 200,799,038-201,013,908 CAMSAP2, KIF21B, 7 more genes
    nsv6673647copy number variation1nstd229human GRCh38 chr1: 200,873,101-201,555,700 , GRCh37.p13 chr1: 200,842,229-201,524,828 GPR25, PHLDA3, 18 more genes
    nsv6672270copy number variation1nstd229human GRCh38 chr1: 201,105,786-201,106,053 , GRCh37.p13 chr1: 201,074,914-201,075,181 CACNA1S
    nsv6659457copy number variation1nstd229human GRCh38 chr1: 201,079,973-201,080,162 , GRCh37.p13 chr1: 201,049,101-201,049,290 CACNA1S
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636485copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,795,738-201,013,947 , GRCh38.p12 chr1: 200,826,610-201,044,819 INAVA, LOC101929305, 7 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6537775inversion1nstd223human GRCh38 chr1: 201,094,950-201,096,885 , GRCh37.p13 chr1: 201,064,078-201,066,013 CACNA1S
    nsv6335313copy number variation1nstd223human GRCh38 chr1: 200,974,330-201,208,004 , GRCh37.p13 chr1: 200,943,458-201,177,132 ASCL5, IGFN1, 4 more genes
    nsv6334399copy number variation1nstd223human GRCh38 chr1: 201,053,286-201,053,644 , GRCh37.p13 chr1: 201,022,414-201,022,772 CACNA1S
    nsv6321427copy number variation1nstd223human GRCh38 chr1: 201,094,949-201,099,008 , GRCh37.p13 chr1: 201,064,077-201,068,136 CACNA1S
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