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Items: 1 to 20 of 158

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7046918inversion1nstd229human GRCh38 chr1: 34,689,928-38,980,899 , GRCh37.p13 chr1: 35,155,529-39,446,571 LOC105378647, NCDN, 112 more genes
    nsv6649830copy number variation1nstd229human GRCh38 chr1: 38,851,247-38,854,811 , GRCh37.p13 chr1: 39,316,919-39,320,483 RRAGC
    nsv6649763copy number variation1nstd229human GRCh38 chr1: 38,837,701-38,840,900 , GRCh37.p13 chr1: 39,303,373-39,306,572 RRAGC
    nsv6537795inversion1nstd223human GRCh38 chr1: 38,853,476-38,854,199 , GRCh37.p13 chr1: 39,319,148-39,319,871 RRAGC
    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
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    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
    nsv5193579mobile element insertion1nstd203human GRCh38 chr1: 38,857,968-38,857,968 , GRCh37.p13 chr1: 39,323,640-39,323,640 RRAGC
    nsv5074076mobile element insertion1nstd203human GRCh38 chr1: 38,849,998-38,850,006 , GRCh37.p13 chr1: 39,315,670-39,315,678 RRAGC
    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
    nsv4594501copy number variation1nstd183human GRCh37 chr1: 39,317,590-39,325,279 , GRCh38.p12 chr1: 38,851,918-38,859,607 RRAGC
    nsv4564325mobile element insertion1nstd166human GRCh37.p13 chr1: 39,312,613-39,312,613 , GRCh38.p12 chr1: 38,846,941-38,846,941 RRAGC
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3969599insertion1nstd168human GRCh38 chr1: 38,829,881-38,868,482 , GRCh37.p13 chr1: 39,295,553-39,334,154 MYCBP, RRAGC, 1 more genes
    nsv3908335copy number variation1nstd102humanLikely benign GRCh37 chr1: 38,956,157-40,014,447 , GRCh38 chr1: 38,490,485-39,548,775 , NCBI36 chr1: 38,728,744-39,787,034 PPIEL, AKIRIN1, 21 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
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