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Items: 1 to 20 of 178

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4682707copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,542,233-48,542,384 , GRCh38.p12 chrX: 48,683,844-48,683,995 WAS
    nsv4458074inversion1nstd102humanPathogenic GRCh37 chrX: 48,540,111-48,546,432 , GRCh38 chrX: 48,681,722-48,688,043 WAS
    nsv4682021copy number variation1nstd102humanUncertain significance GRCh37 chrX: 48,542,223-48,549,573 , GRCh38.p12 chrX: 48,683,834-48,691,182 WAS
    nsv6313459copy number variation1nstd102humanUncertain significance GRCh37 chrX: 48,542,243-48,549,553 , GRCh38.p12 chrX: 48,683,854-48,691,162 WAS
    nsv4681756copy number variation1nstd102humanUncertain significance GRCh37 chrX: 48,549,478-48,549,573 , GRCh38.p12 chrX: 48,691,087-48,691,182 WAS
    nsv3883721copy number variation1nstd102humanPathogenic GRCh37 chr17: 65,898,399-65,986,986 , GRCh38.p12 chr17: 67,902,283-67,990,870 C17orf58, BPTF, 1 more genes
    nsv3874585copy number variation1nstd102humanUncertain significance GRCh37 chr16: 4,264,335-4,387,622 , GRCh38 chr16: 4,214,334-4,337,621 LINC01569, SRL, 3 more genes
    nsv3889416copy number variation1nstd102humanPathogenic GRCh37 chr17: 65,700,189-65,896,342 , GRCh38.p12 chr17: 67,704,073-67,900,226 BPTF, NOL11, 4 more genes
    nsv7098666copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,542,243-48,652,571 , GRCh38.p12 chrX: 48,683,854-48,794,164 WAS, GATA1, 5 more genes
    nsv3904162copy number variation1nstd102humanPathogenic GRCh38 chrX: 10,001-156,030,895 , GRCh37 chrX: 60,001-155,260,560 , NCBI36 chrX: 1-154,913,754 WAS, NANOGNBP3, 2154 more genes
    nsv3913255copy number variation2nstd102humanPathogenic NCBI36 chrX: 701-154,913,754 , GRCh37.p13 chrX: 60,701-155,260,560 , GRCh38.p12 chrX: 10,701-156,030,895 WAS, NHS-AS1, 2154 more genes
    nsv3907094copy number variation4nstd102humanPathogenic GRCh38 chrX: 10,679-156,022,206 , GRCh37 chrX: 60,679-155,251,871 , NCBI36 chrX: 679-154,905,065 WAS, GPR119, 2153 more genes
    nsv3878553copy number variation2nstd102humanPathogenic GRCh37 chrX: 60,262-155,245,765 , GRCh38.p12 chrX: 10,262-156,016,100 WAS, H2AB2, 2152 more genes
    nsv3898149copy number variation1nstd102humanPathogenic GRCh38 chrX: 20,297-156,026,127 , NCBI36 chrX: 10,297-154,908,986 , GRCh37 chrX: 70,297-155,255,792 WAS, OR3B1P, 2154 more genes
    nsv3877395copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,839 , GRCh38.p12 chrX: 21,267-156,026,174 WAS, ARMCX2, 2154 more genes
    nsv3884935copy number variation1nstd102humanPathogenic GRCh37 chrX: 71,267-155,255,792 , GRCh38.p12 chrX: 21,267-156,026,127 WAS, NDUFB11, 2154 more genes
    nsv3903061copy number variation1nstd102humanPathogenic NCBI36 chrX: 679-154,896,026 , GRCh38 chrX: 10,679-156,013,167 , GRCh37 chrX: 60,679-155,242,832 WAS, SLC38A5, 2152 more genes
    nsv3885865copy number variation1nstd102humanPathogenic GRCh37 chrX: 70,297-155,246,585 , GRCh38.p12 chrX: 20,297-156,016,920 WAS, MIR1277, 2152 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 WAS, LOC105373176, 2151 more genes
    nsv3907545copy number variation1nstd102humanPathogenic GRCh37 chrX: 64,245-155,228,958 , NCBI36 chrX: 4,245-154,882,152 , GRCh38 chrX: 14,245-155,999,293 WAS, TMEM30BP1, 2151 more genes
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