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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099226copy number variation1nstd231human GRCh38.p12 chr1: 115,063,638-119,984,872 , GRCh37 chr1: 115,606,259-120,527,495 ATP1A1, CASQ2, 103 more genes
    nsv7095742copy number variation1nstd102humanUncertain significance GRCh37 chr1: 116,310,909-116,947,066 , GRCh38.p12 chr1: 115,768,288-116,404,444 LOC105378918, HNRNPA1P43, 12 more genes
    nsv7039033inversion1nstd229human GRCh38 chr1: 113,396,540-116,450,790 , GRCh37.p13 chr1: 113,939,162-116,993,412 ELOCP20, NHLH2, 60 more genes
    nsv6640645copy number variation1nstd229human GRCh38 chr1: 116,131,001-116,135,000 , GRCh37.p13 chr1: 116,673,622-116,677,621 MAB21L3
    nsv6640569copy number variation1nstd229human GRCh38 chr1: 116,127,490-116,128,759 , GRCh37.p13 chr1: 116,670,111-116,671,380 MAB21L3
    nsv6640568copy number variation1nstd229human GRCh38 chr1: 116,124,958-116,126,094 , GRCh37.p13 chr1: 116,667,579-116,668,715 MAB21L3
    nsv6640567copy number variation1nstd229human GRCh38 chr1: 116,111,260-116,111,290 , GRCh37.p13 chr1: 116,653,881-116,653,911 MAB21L3
    nsv6640566copy number variation1nstd229human GRCh38 chr1: 116,108,647-116,111,833 , GRCh37.p13 chr1: 116,651,268-116,654,454 MAB21L3
    nsv6640561copy number variation1nstd229human GRCh38 chr1: 115,965,201-116,325,600 , GRCh37.p13 chr1: 116,507,822-116,868,222 LOC105378919, MAB21L3, 5 more genes
    nsv6625101copy number variation1nstd224human GRCh37 chr1: 116,286,983-117,087,208 , GRCh38.p12 chr1: 115,744,362-116,544,586 HNRNPA1P43, LOC101928977, 18 more genes
    nsv6549317inversion1nstd223human GRCh38 chr1: 111,078,274-116,976,218 , GRCh37.p13 chr1: 111,620,896-117,518,840 RNU6-792P, TXNP3, 141 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 more genes
    nsv6133549copy number variation1nstd213human GRCh37 chr1: 116,100,000-117,130,001 , GRCh38.p12 chr1: 115,557,379-116,587,379 HNRNPA1P43, NAP1L4P1, 26 more genes
    nsv5980781copy number variation1nstd212human GRCh38 chr1: 116,122,785-116,122,900 , GRCh37.p13 chr1: 116,665,406-116,665,521 MAB21L3, LOC105378918
    nsv5421807copy number variation1nstd206human GRCh38 chr1: 116,125,687-116,125,778 , GRCh37.p13 chr1: 116,668,308-116,668,399 MAB21L3
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4890929copy number variation1nstd200human GRCh38 chr1: 116,109,472-116,110,216 , GRCh37.p13 chr1: 116,652,093-116,652,837 MAB21L3
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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