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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099258copy number variation1nstd231human GRCh38.p12 chr1: 204,554,363-205,184,087 , GRCh37 chr1: 204,523,491-205,153,215 MDM4, RBBP5, 13 more genes
    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
    nsv7095778copy number variation1nstd102humanPathogenic GRCh37 chr1: 205,022,314-205,042,893 , GRCh38.p12 chr1: 205,053,186-205,073,765 CNTN2
    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
    nsv6677843copy number variation1nstd229human GRCh38 chr1: 205,044,354-205,065,666 , GRCh37.p13 chr1: 205,013,482-205,034,794 CNTN2
    nsv6672845copy number variation1nstd229human GRCh38 chr1: 205,076,991-205,082,090 , GRCh37.p13 chr1: 205,046,119-205,051,218 TMEM81, CNTN2
    nsv6661569copy number variation1nstd229human GRCh38 chr1: 205,060,338-205,061,713 , GRCh37.p13 chr1: 205,029,466-205,030,841 CNTN2
    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
    nsv6332950copy number variation1nstd223human GRCh38 chr1: 205,077,821-205,081,754 , GRCh37.p13 chr1: 205,046,949-205,050,882 CNTN2, TMEM81
    nsv6332590copy number variation1nstd223human GRCh38 chr1: 205,078,375-205,079,574 , GRCh37.p13 chr1: 205,047,503-205,048,702 CNTN2
    nsv6299908copy number variation1nstd186human GRCh37 chr1: 205,045,481-205,045,541 , GRCh38.p12 chr1: 205,076,353-205,076,413 CNTN2
    nsv6133968copy number variation1nstd213human GRCh37 chr1: 204,880,000-205,260,001 , GRCh38.p12 chr1: 204,910,872-205,290,873 TMCC2-AS1, RPL13AP11, 8 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
    nsv6133625copy number variation1nstd213human GRCh37 chr1: 204,310,000-205,100,001 , GRCh38.p12 chr1: 204,340,872-205,130,873 MDM4, RBBP5, 20 more genes
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