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Items: 1 to 20 of 105

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3887547copy number variation1nstd102humanBenign GRCh37 chr2: 29,337,997-29,338,797 , GRCh38.p12 chr2: 29,115,131-29,115,931 CLIP4
    nsv3885634copy number variation1nstd102humanBenign GRCh37 chr2: 29,338,097-29,338,797 , GRCh38.p12 chr2: 29,115,231-29,115,931 CLIP4
    nsv4457617copy number variation1nstd102humanUncertain significance GRCh37 chr21: 43,852,444-43,913,048 , GRCh38.p12 chr21: 42,432,335-42,492,938 RSPH1, UBASH3A
    nsv3871611copy number variation1nstd102humanUncertain significance GRCh37 chr2: 29,317,927-29,706,226 , GRCh38.p12 chr2: 29,095,061-29,483,360 CLIP4, LOC105374389, 3 more genes
    nsv4728664copy number variation1nstd102humanUncertain significance GRCh37 chr2: 29,363,817-29,675,766 , GRCh38.p12 chr2: 29,140,951-29,452,900 CLIP4, ALK, 1 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CLIP4, CYP1B1-AS1, 1649 more genes
    nsv3923176copy number variation1nstd102humanPathogenic GRCh38 chr21: 7,817,158-46,670,440 , NCBI36 chr21: 14,406,909-46,914,780 , GRCh37 chr21: 15,485,038-48,090,352 COL18A1-AS2, RCAN1, 682 more genes
    nsv3905423copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,538,655-48,080,926 , GRCh38.p12 chr21: 14,166,334-46,661,014 MTND5P1, RPL37P3, 581 more genes
    nsv3913105copy number variation1nstd102humanPathogenic GRCh37 chr21: 36,162,250-48,056,450 , GRCh38 chr21: 34,789,953-46,636,538 , NCBI36 chr21: 35,084,120-46,880,878 KRTAP10-12, LINC01678, 287 more genes
    nsv3908171copy number variation1nstd102humanPathogenic GRCh37 chr21: 37,914,123-48,097,372 , GRCh38.p12 chr21: 36,541,825-46,677,460 AIRE, LSS, 256 more genes
    nsv3908653copy number variation1nstd102humanPathogenic GRCh37 chr21: 38,699,545-48,097,372 , GRCh38.p12 chr21: 37,327,243-46,677,460 MIR6070, KCNJ6-AS1, 239 more genes
    nsv3918954copy number variation1nstd102humanPathogenic NCBI36 chr21: 37,963,800-46,915,400 , GRCh38 chr21: 37,669,628-46,671,060 , GRCh37 chr21: 39,041,930-48,090,972 LCA5L, B3GALT5-AS1, 236 more genes
    nsv3891817copy number variation1nstd102humanPathogenic NCBI36 chr21: 34,449,822-43,171,589 , GRCh37 chr21: 35,527,952-44,298,520 , GRCh38.p12 chr21: 34,155,652-42,878,410 LOC107985513, LOC101928398, 168 more genes
    nsv3923914copy number variation1nstd102humanPathogenic GRCh37 chr21: 40,188,323-48,097,372 , NCBI36 chr21: 39,110,193-46,921,800 , GRCh38 chr21: 38,816,399-46,677,460 RNU6-1149P, MYL6P2, 219 more genes
    nsv3904283copy number variation1nstd102humanPathogenic GRCh37 chr21: 41,254,101-48,097,372 , GRCh38.p12 chr21: 39,882,175-46,677,460 C2CD2, TFF1, 188 more genes
    nsv3914376copy number variation1nstd102humanPathogenic NCBI36 chr21: 40,550,036-46,944,323 , GRCh37.p13 chr21: 41,628,166-48,119,895 , GRCh38.p12 chr21: 40,256,239-46,699,983 PRMT2, LOC105372814, 187 more genes
    nsv3911560copy number variation1nstd102humanPathogenic GRCh37 chr21: 41,667,952-48,090,352 , NCBI36 chr21: 40,589,822-46,914,780 , GRCh38 chr21: 40,296,025-46,670,440 LOC102723380, TFF1, 186 more genes
    nsv3896855copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,335,622-48,097,372 , GRCh38.p12 chr21: 40,963,696-46,677,460 ZBTB21, LOC105372841, 181 more genes
    nsv4676372copy number variation1nstd102humanPathogenic GRCh37 chr21: 39,410,438-45,171,756 , GRCh38.p12 chr21: 38,038,136-43,751,875 KCNJ15, SPATA20P1, 126 more genes
    nsv3908049copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,410,406-48,097,372 , GRCh38.p12 chr21: 41,038,480-46,677,460 TRPM2, LRRC3-DT, 181 more genes
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