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Items: 1 to 20 of 1736

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6313578copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,145,364-70,023,881 , GRCh38.p12 chr7: 69,680,378-70,558,895 AUTS2
    nsv3897425copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,325,515-69,644,230 , GRCh38.p12 chr7: 69,860,529-70,179,244 AUTS2
    nsv6313646copy number variation1nstd102humanPathogenic GRCh37 chr2: 50,980,691-51,236,988 , GRCh38.p12 chr2: 50,753,553-51,009,850 NRXN1
    nsv6313427copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,658,783-31,904,252 , GRCh38.p12 chrX: 31,640,666-31,886,135 DMD
    nsv6313066copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,695,496-31,889,320 , GRCh38.p12 chrX: 31,677,379-31,871,203 DMD
    nsv6313742copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,027,613-51,216,518 , GRCh38.p12 chr2: 50,800,475-50,989,380 NRXN1
    nsv3877692copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,032,041-51,189,570 , GRCh38.p12 chr2: 50,804,903-50,962,432 NRXN1
    nsv6313184copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,814,056-31,970,799 , GRCh38.p12 chrX: 31,795,939-31,952,682 DMD
    nsv6313997copy number variation1nstd102humanPathogenic GRCh37 chr12: 14,070,549-14,224,680 , GRCh38.p12 chr12: 13,917,615-14,071,746 GRIN2B
    nsv6313645copy number variation1nstd102humanPathogenic GRCh37 chr7: 69,527,664-69,647,986 , GRCh38.p12 chr7: 70,062,678-70,183,000 AUTS2
    nsv6313002copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,760,632-31,864,900 , GRCh38.p12 chrX: 31,742,515-31,846,783 DMD
    nsv6313554copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,107,112-51,206,342 , GRCh38.p12 chr2: 50,879,974-50,979,204 NRXN1
    nsv3878122copy number variation1nstd102humanPathogenic GRCh37 chrX: 67,497,166-67,594,258 , GRCh38.p12 chrX: 68,277,324-68,374,416 OPHN1
    nsv3909454copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr12: 80,632,582-80,728,257 , GRCh38.p12 chr12: 80,238,802-80,334,477 OTOGL
    nsv6313771copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,125,057-51,216,518 , GRCh38.p12 chr2: 50,897,919-50,989,380 NRXN1
    nsv3873046copy number variation1nstd102humanPathogenic GRCh37 chr3: 176,854,043-176,941,772 , GRCh38.p12 chr3: 177,136,255-177,223,984 TBL1XR1
    nsv3883208copy number variation1nstd102humanPathogenic GRCh37 chr2: 148,894,900-148,979,973 , GRCh38.p12 chr2: 148,137,331-148,222,404 MBD5
    nsv3876142copy number variation1nstd102humanPathogenic GRCh37 chr2: 148,897,424-148,979,973 , GRCh38.p12 chr2: 148,139,855-148,222,404 MBD5
    nsv6313189copy number variation1nstd102humanPathogenic GRCh37 chrX: 32,284,109-32,353,231 , GRCh38.p12 chrX: 32,265,992-32,335,114 DMD
    nsv6313809copy number variation1nstd102humanPathogenic GRCh37 chr3: 71,251,088-71,312,384 , GRCh38.p12 chr3: 71,201,937-71,263,233 FOXP1
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