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Items: 1 to 20 of 183

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7142115copy number variation1nstd232human GRCh37.p13 chr1: 204,177,505-204,177,562 , GRCh38.p12 chr1: 204,208,377-204,208,434 GOLT1A
    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
    nsv6672646copy number variation1nstd229human GRCh38 chr1: 204,208,481-204,211,416 , GRCh37.p13 chr1: 204,177,609-204,180,544 GOLT1A
    nsv6671408copy number variation1nstd229human GRCh38 chr1: 204,197,152-204,200,271 , GRCh37.p13 chr1: 204,166,280-204,169,399 GOLT1A
    nsv6671303copy number variation1nstd229human GRCh38 chr1: 203,890,844-204,196,485 , GRCh37.p13 chr1: 203,859,972-204,165,613 SOX13, GOLT1A, 8 more genes
    nsv6666647copy number variation1nstd229human GRCh38 chr1: 204,208,383-204,208,435 , GRCh37.p13 chr1: 204,177,511-204,177,563 GOLT1A
    nsv6665924copy number variation1nstd229human GRCh38 chr1: 204,197,523-204,197,710 , GRCh37.p13 chr1: 204,166,651-204,166,838 GOLT1A
    nsv6660052copy number variation1nstd229human GRCh38 chr1: 204,173,001-204,217,800 , GRCh37.p13 chr1: 204,142,129-204,186,928 GOLT1A, LOC100420418, 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
    nsv6323037copy number variation1nstd223human GRCh38 chr1: 204,197,151-204,200,270 , GRCh37.p13 chr1: 204,166,279-204,169,398 GOLT1A
    nsv6316365copy number variation1nstd223human GRCh38 chr1: 204,207,093-204,226,855 , GRCh37.p13 chr1: 204,176,221-204,195,983 PLEKHA6, LOC100420418, 1 more genes
    nsv6159245copy number variation1nstd214human GRCh38 chr1: 204,208,377-204,208,434 , GRCh37.p13 chr1: 204,177,505-204,177,562 GOLT1A
    nsv6152907copy number variation1nstd214human GRCh38 chr1: 204,208,278-204,208,403 , GRCh37.p13 chr1: 204,177,406-204,177,531 GOLT1A
    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
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 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
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