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Items: 1 to 20 of 1015

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095408copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,760,657-59,934,602 , GRCh38.p12 chr17: 61,683,296-61,857,241 BRIP1
    nsv5673137copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,770,781-59,938,900 , GRCh38.p12 chr17: 61,693,420-61,861,539 BRIP1
    nsv6310397copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,760,657-59,871,100 , GRCh38.p12 chr17: 61,683,296-61,793,739 BRIP1
    nsv7095407copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,760,657-59,861,805 , GRCh38.p12 chr17: 61,683,296-61,784,444 BRIP1
    nsv4451993copy number variation1nstd102humanPathogenic GRCh38 chr17: 61,715,941-61,808,767 , GRCh37 chr17: 59,793,302-59,886,128 BRIP1
    nsv4451754copy number variation1nstd102humanPathogenic GRCh38 chr2: 214,728,666-214,797,127 , GRCh37 chr2: 215,593,390-215,661,851 BARD1
    nsv5564337copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 215,593,400-215,661,851 , GRCh38.p12 chr2: 214,728,676-214,797,127 BARD1
    nsv5381037copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,820,364-59,886,128 , GRCh38.p12 chr17: 61,743,003-61,808,767 BRIP1
    nsv3883816copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,820,368-59,886,124 , GRCh38 chr17: 61,743,007-61,808,763 BRIP1
    nsv5673692copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,593,400-215,657,179 , GRCh38.p12 chr2: 214,728,676-214,792,455 BARD1
    nsv5672888copy number variation1nstd102humanPathogenic GRCh37 chr17: 59,760,657-59,821,962 , GRCh38.p12 chr17: 61,683,296-61,744,601 BRIP1
    nsv3878836copy number variation1nstd102humanPathogenic GRCh38 chr2: 214,728,670-214,781,515 , GRCh37.p13 chr2: 215,593,394-215,646,239 BARD1
    nsv5673378copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,593,400-215,646,243 , GRCh38.p12 chr2: 214,728,676-214,781,519 BARD1
    nsv7098761copy number variation1nstd102humanPathogenic GRCh37 chr11: 108,105,163-108,155,884 , GRCh38.p12 chr11: 108,234,436-108,285,157 ATM
    nsv4449760copy number variation1nstd102humanPathogenic GRCh38 chr13: 32,330,899-32,380,165 , GRCh37 chr13: 32,905,036-32,954,302 BRCA2
    nsv4453373copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,875-29,130,719 , GRCh38 chr22: 28,687,887-28,734,731 CHEK2
    nsv3881923copy number variation1nstd102humanPathogenic GRCh38 chr22: 28,687,891-28,734,727 , GRCh37 chr22: 29,083,879-29,130,715 CHEK2
    nsv5673348copy number variation1nstd102humanPathogenic GRCh37 chr22: 29,083,885-29,130,709 , GRCh38.p12 chr22: 28,687,897-28,734,721 CHEK2
    nsv3884162copy number variation1nstd102humanPathogenic GRCh38 chr13: 32,316,455-32,357,935 , GRCh37 chr13: 32,890,592-32,932,072 BRCA2
    nsv4451800copy number variation1nstd102humanPathogenic GRCh38 chr22: 28,694,022-28,734,731 , GRCh37 chr22: 29,090,010-29,130,719 CHEK2
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    • "nstd102"[study] AND "brca1"[Clinical Phenotype] AND "and"[Clinic... (1016)
      "nstd102"[study] AND "brca1"[Clinical Phenotype] AND "and"[Clinical Phenotype] AND "brca2"[Clinical Phenotype] AND "associated"[Clinical Phenotype] AND "hereditary"[Clinical Phenotype] AND "breast"[Clinical Phenotype] AND "and"[Clinical Phenotype] AND "ovarian"[Clinical Phenotype] AND "cancer"[Clinical Phenotype]
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