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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
    nsv7099257copy number variation1nstd231human GRCh38.p12 chr1: 203,396,218-207,103,915 , GRCh37 chr1: 203,365,346-207,277,260 ATP2B4, AVPR1B, 116 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
    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
    nsv7044092inversion1nstd229human GRCh38 chr1: 203,118,726-211,305,271 , GRCh37.p13 chr1: 203,087,854-211,478,613 LOC100420418, LINC00260, 201 more genes
    nsv6676660copy number variation1nstd229human GRCh38 chr1: 205,162,922-205,432,997 , GRCh37.p13 chr1: 205,132,050-205,402,125 KLHDC8A, BLACAT1, 9 more genes
    nsv6674061copy number variation1nstd229human GRCh38 chr1: 205,439,911-205,442,418 , GRCh37.p13 chr1: 205,409,039-205,411,546 BLACAT1, LEMD1
    nsv6658914copy number variation1nstd229human GRCh38 chr1: 205,368,397-205,441,281 , GRCh37.p13 chr1: 205,337,525-205,410,409 LOC105371698, LEMD1, 2 more genes
    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
    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
    nsv6554773inversion1nstd223human GRCh38 chr1: 204,500,842-208,290,127 , GRCh37.p13 chr1: 204,469,970-208,463,472 RNA5SP75, LOC105372869, 108 more genes
    nsv6324129copy number variation1nstd223human GRCh38 chr1: 205,455,701-205,457,500 , GRCh37.p13 chr1: 205,424,829-205,426,628 LEMD1-DT, BLACAT1
    nsv6316348copy number variation1nstd223human GRCh38 chr1: 205,368,397-205,441,281 , GRCh37.p13 chr1: 205,337,525-205,410,409 LEMD1-AS1, LEMD1, 2 more genes
    nsv6133967copy number variation1nstd213human GRCh37 chr1: 203,630,000-205,910,001 , GRCh38.p12 chr1: 203,660,872-205,940,873 PLEKHA6, KLHDC8A, 73 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133846copy number variation1nstd213human GRCh37 chr1: 203,140,000-205,920,001 , GRCh38.p12 chr1: 203,170,872-205,950,873 CHIT1, ELK4, 90 more genes
    nsv6133626copy number variation1nstd213human GRCh37 chr1: 205,160,000-206,320,001 , GRCh38.p12 chr1: 205,190,872-205,953,579 CDK18, LEMD1-AS1, 29 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5210146copy number variation1nstd204human GRCh38.p13 chr1: 205,437,401-205,442,500 , GRCh37.p13 chr1: 205,406,529-205,411,628 LEMD1, BLACAT1
    nsv4904276copy number variation1nstd200human GRCh38 chr1: 205,368,397-205,441,281 , GRCh37.p13 chr1: 205,337,525-205,410,409 LEMD1-AS1, LEMD1, 2 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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