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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv1309084copy number variation1nstd122human NCBI36 chr1: 53,780,451-54,344,831 , GRCh37.p13 chr1: 54,007,863-54,572,243 , GRCh38.p12 chr1: 53,542,190-54,106,570 LRRC42, TMEM59, 12 more genes
    nsv1196323copy number variation1nstd113human NCBI36 chr1: 53,892,776-54,339,312 , GRCh37.p13 chr1: 54,120,188-54,566,724 , GRCh38.p12 chr1: 53,654,515-54,101,051 NDC1, GLIS1, 12 more genes
    nsv1193690copy number variation1nstd113human NCBI36 chr1: 53,758,666-54,077,601 , GRCh37.p13 chr1: 53,986,078-54,305,013 , GRCh38.p12 chr1: 53,520,405-53,839,340 NDC1, GLIS1, 1 more genes
    nsv1188018copy number variation1nstd113human NCBI36 chr1: 37,169,425-56,120,923 , GRCh37.p13 chr1: 37,396,838-56,348,335 , GRCh38.p12 chr1: 36,931,237-55,882,662 , ATP6V0B, 501 more genes
    nsv1173083copy number variation226nstd112Neandertal, Denisova hominin, human GRCh37 chr1: 54,239,415-54,251,055 , GRCh38.p12 chr1: 53,773,742-53,785,382 NDC1
    nsv1154258insertion1nstd105human GRCh38.p12 chr1: 53,778,838-53,782,276 , GRCh37 chr1: 54,244,511-54,247,949 NDC1
    nsv1146931inversion1nstd107human GRCh37 chr1: 6,858,651-214,875,307 , GRCh38.p12 chr1: 6,798,591-214,701,964 , ABCA4, 4151 more genes
    nsv1132997inversion1nstd106human GRCh37 chr1: 16,843,414-234,953,211 , GRCh38.p12 chr1: 16,516,919-234,817,464 , AGT, 4287 more genes
    nsv1130629copy number variation1nstd106human GRCh37 chr1: 16,926,343-149,118,854 , GRCh38.p12 chr1: 16,599,848-149,528,945 , LINC01361, 2341 more genes
    esv3815443copy number variation1estd192human GRCh37 chr1: 14,660,218-180,369,490 , GRCh38.p12 chr1: 14,333,723-180,400,355 , LOC105378768, 3374 more genes
    esv3807919copy number variation1estd192human GRCh37 chr1: 40,828,753-62,887,011 , GRCh38.p12 chr1: 40,363,081-62,421,340 , LOC100507634, 479 more genes
    esv3802558copy number variation1estd192human GRCh37 chr1: 53,543,733-89,340,024 , GRCh38.p12 chr1: 53,078,061-88,874,341 , FGGY-DT, 489 more genes
    esv3812944copy number variation1estd192human GRCh37 chr1: 22,511,560-229,652,792 , GRCh38.p12 chr1: 22,185,067-229,517,045 , GSTM1, 4028 more genes
    esv3810793copy number variation1estd192human GRCh37 chr1: 48,301,499-248,278,979 , GRCh38.p12 chr1: 47,835,827-248,115,677 , MIR205, 3663 more genes
    esv3814381copy number variation1estd192human GRCh37 chr1: 47,961,190-60,990,844 , GRCh38.p12 chr1: 47,495,518-60,525,172 , LOC105378719, 230 more genes
    esv3813020tandem duplication1estd192human GRCh37 chr1: 14,110,368-62,319,787 , GRCh38.p12 chr1: 13,783,873-61,854,115 , ARID1A, 1186 more genes
    esv3803753copy number variation1estd192human GRCh37 chr1: 37,379,034-80,955,788 , GRCh38.p12 chr1: 36,913,433-80,490,103 , RNF220, 818 more genes
    esv3797795copy number variation1estd192human GRCh37 chr1: 52,478,192-65,690,137 , GRCh38.p12 chr1: 52,012,520-65,224,454 , TACSTD2, 233 more genes
    esv3802668tandem duplication1estd192human GRCh37 chr1: 31,447,939-156,473,039 , GRCh38.p12 chr1: 30,975,092-156,503,247 , SNORA110, 2321 more genes
    esv3808620tandem duplication1estd192human GRCh37 chr1: 46,087,337-113,354,968 , GRCh38.p12 chr1: 45,621,665-112,812,346 , LOC107985391, 1083 more genes
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