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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6650167copy number variation1nstd229human GRCh38 chr1: 42,719,996-42,758,376 , GRCh37.p13 chr1: 43,185,667-43,224,047 CLDN19, P3H1
    nsv6650114copy number variation1nstd229human GRCh38 chr1: 42,722,501-42,895,500 , GRCh37.p13 chr1: 43,188,172-43,361,171 C1orf50, ZNF691, 10 more genes
    nsv6331141copy number variation1nstd223human GRCh38 chr1: 42,763,414-42,763,887 , GRCh37.p13 chr1: 43,229,085-43,229,558 P3H1
    nsv6319502copy number variation1nstd223human GRCh38 chr1: 42,752,500-42,753,004 , GRCh37.p13 chr1: 43,218,171-43,218,675 P3H1
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6310808copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,218,172-43,218,675 , GRCh38.p12 chr1: 42,752,501-42,753,004 P3H1
    nsv6152734copy number variation1nstd214human GRCh38 chr1: 42,750,556-42,750,724 , GRCh37.p13 chr1: 43,216,227-43,216,395 P3H1
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5984234copy number variation1nstd212human GRCh38 chr1: 42,750,770-42,751,022 , GRCh37.p13 chr1: 43,216,441-43,216,693 P3H1
    nsv5984144copy number variation1nstd212human GRCh38 chr1: 42,750,684-42,750,812 , GRCh37.p13 chr1: 43,216,355-43,216,483 P3H1
    nsv5984106copy number variation1nstd212human GRCh38 chr1: 42,750,569-42,750,739 , GRCh37.p13 chr1: 43,216,240-43,216,410 P3H1
    nsv5570042copy number variation1nstd207human GRCh38 chr1: 42,750,556-42,750,724 , GRCh37.p13 chr1: 43,216,227-43,216,395 P3H1
    nsv5417321copy number variation1nstd206human GRCh38 chr1: 42,762,227-42,769,842 , GRCh37.p13 chr1: 43,227,898-43,235,513 P3H1, C1orf50
    nsv5415028copy number variation1nstd206human GRCh38 chr1: 42,745,499-42,745,662 , GRCh37.p13 chr1: 43,211,170-43,211,333 P3H1
    nsv5284312copy number variation1nstd204human GRCh38.p13 chr1: 42,752,502-42,753,006 , GRCh37.p13 chr1: 43,218,173-43,218,677 P3H1
    nsv5069285mobile element insertion1nstd203human GRCh38 chr1: 42,764,563-42,764,581 , GRCh37.p13 chr1: 43,230,234-43,230,252 P3H1
    nsv4906165copy number variation1nstd200human GRCh38 chr1: 42,765,273-42,767,261 , GRCh37.p13 chr1: 43,230,944-43,232,932 P3H1, C1orf50
    nsv4903407copy number variation1nstd200human GRCh38 chr1: 42,744,116-42,762,784 , GRCh37.p13 chr1: 43,209,787-43,228,455 P3H1
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