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Items: 1 to 20 of 124

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5432831copy number variation1nstd206human GRCh38 chr1: 66,628,829-66,629,098 , GRCh37.p13 chr1: 67,094,512-67,094,781 MIR3117, SGIP1
    nsv5425987copy number variation1nstd206human GRCh38 chr1: 66,626,803-66,626,862 , GRCh37.p13 chr1: 67,092,486-67,092,545 SGIP1, MIR3117
    nsv4896091copy number variation1nstd200human GRCh38 chr1: 66,626,038-66,627,482 , GRCh37.p13 chr1: 67,091,721-67,093,165 MIR3117, SGIP1
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 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
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 more genes
    nsv4449847copy number variation1nstd102humanPathogenic GRCh37 chr1: 66,868,168-77,106,425 , GRCh38.p12 chr1: 66,402,485-76,640,740 GNG12-AS1, C1orf141, 118 more genes
    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
    nsv4044155copy number variation1nstd166human GRCh37.p13 chr1: 67,092,486-67,092,545 , GRCh38.p12 chr1: 66,626,803-66,626,862 SGIP1, MIR3117
    nsv4042277copy number variation1nstd166human GRCh37.p13 chr1: 67,093,439-67,093,872 , GRCh38.p12 chr1: 66,627,756-66,628,189 MIR3117, SGIP1
    nsv3909388copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195 RNU6-1031P, LOC107984963, 193 more genes
    nsv3907158copy number variation1nstd102humanPathogenic GRCh38 chr1: 64,072,618-75,518,432 , NCBI36 chr1: 64,310,878-75,756,705 , GRCh37 chr1: 64,538,290-75,984,117 SGIP1, INSL5, 134 more genes
    nsv3906889copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 65,182,796-67,830,274 , GRCh37 chr1: 65,410,208-68,057,686 , GRCh38 chr1: 64,944,525-67,592,003 AK4, IL12RB2, 39 more genes
    nsv3903468copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,870,760-76,969,150 , GRCh37 chr1: 60,098,172-77,196,562 , GRCh38 chr1: 59,632,500-76,730,877 WLS, LOC105378776, 219 more genes
    nsv3901841copy number variation1nstd102humanPathogenic GRCh38 chr1: 59,760,856-71,578,052 , NCBI36 chr1: 59,999,116-71,816,323 , GRCh37 chr1: 60,226,528-72,043,735 MIR3116-2, NFIA-AS2, 169 more genes
    nsv3901546copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611 ROR1, RNA5SP51, 333 more genes
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