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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5680914mobile element insertion1nstd211human GRCh38 chr1: 40,298,548-40,298,548 , GRCh37.p13 chr1: 40,764,220-40,764,220 COL9A2
    nsv5419166copy number variation1nstd206human GRCh38 chr1: 40,282,326-40,393,224 , GRCh37.p13 chr1: 40,747,998-40,858,896 , COL9A2, 3 more genes
    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
    nsv4581211copy number variation1nstd183human GRCh37 chr1: 40,769,442-40,769,749 , GRCh38.p12 chr1: 40,303,770-40,304,077 COL9A2
    nsv4581210copy number variation2nstd183human GRCh37 chr1: 40,769,314-40,769,486 , GRCh38.p12 chr1: 40,303,642-40,303,814 COL9A2
    nsv4581107copy number variation2nstd183human GRCh37 chr1: 40,770,187-40,770,483 , GRCh38.p12 chr1: 40,304,515-40,304,811 COL9A2
    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
    nsv3905829copy number variation1nstd102humanPathogenic GRCh38 chr1: 39,360,747-40,900,817 , GRCh37 chr1: 39,826,419-41,366,489 , NCBI36 chr1: 39,599,006-41,139,076 RLF, LOC105378671, 53 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
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 NT5C1A, FOXO6, 98 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3137512copy number variation1nstd151human GRCh37 chr1: 40,777,728-40,780,064 , GRCh38.p12 chr1: 40,312,056-40,314,392 COL9A2
    nsv3136579copy number variation1nstd151human GRCh37 chr1: 40,773,372-40,775,994 , GRCh38.p12 chr1: 40,307,700-40,310,322 COL9A2
    nsv3133488copy number variation1nstd151human GRCh37 chr1: 40,775,780-40,778,156 , GRCh38.p12 chr1: 40,310,108-40,312,484 COL9A2
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