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Items: 1 to 20 of 22754

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3875336copy number variation1nstd102humanPathogenic NCBI36 chr1: 142,513,049-147,499,105 , GRCh37 chr1: 143,721,526-149,232,481 , GRCh38.p12 chr7: 58,093,723-62,429,627 LOC101060796
    nsv3921333copy number variation1nstd102humanPathogenic NCBI36 chr7: 68,768,173-69,374,770 , GRCh38 chr7: 69,665,251-70,271,848 , GRCh37 chr7: 69,130,237-69,736,834 AUTS2
    nsv3897330copy number variation1nstd102humanPathogenic GRCh38 chrX: 31,540,244-32,059,446 , GRCh37 chrX: 31,558,361-32,077,563 , NCBI36 chrX: 31,468,282-31,987,484 DMD
    nsv3897255copy number variation1nstd102humanPathogenic GRCh37 chrX: 29,147,023-29,533,186 , GRCh38 chrX: 29,128,906-29,515,069 , NCBI36 chrX: 29,056,944-29,443,107 IL1RAPL1
    nsv3922487copy number variation1nstd102humanPathogenic GRCh37 chr6: 124,437,486-124,820,793 , GRCh38 chr6: 124,116,341-124,499,647 , NCBI36 chr6: 124,479,185-124,862,492 NKAIN2
    nsv3904547copy number variation1nstd102humanPathogenic GRCh37 chr12: 23,899,592-24,266,672 , GRCh38.p12 chr12: 23,746,658-24,113,738 SOX5
    nsv3884968copy number variation1nstd102humanPathogenic GRCh37 chrX: 571,286-920,674 , GRCh38.p12 chrX: 610,551-959,939 SHOX
    nsv3872415copy number variation1nstd102humanPathogenic GRCh37 chrX: 517,225-839,488 , GRCh38.p12 chrX: 556,490-878,753 SHOX
    nsv3905990copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,650,185-31,972,259 , NCBI36 chrX: 31,560,106-31,882,180 , GRCh38 chrX: 31,632,068-31,954,142 DMD
    nsv3903514copy number variation1nstd102humanPathogenic NCBI36 chrX: 465,953-765,273 , GRCh38 chrX: 585,218-884,538 , GRCh37 chrX: 545,953-803,877 SHOX
    nsv3892943copy number variation1nstd102humanPathogenic GRCh38 chr2: 50,710,306-50,999,091 , GRCh37 chr2: 50,937,444-51,226,229 , NCBI36 chr2: 50,790,948-51,079,733 NRXN1
    nsv3920457copy number variation1nstd102humanPathogenic GRCh38 chr7: 70,206,515-70,493,590 , NCBI36 chr7: 69,309,437-69,596,512 , GRCh37 chr7: 69,671,501-69,958,576 AUTS2
    nsv3883853copy number variation1nstd102humanPathogenic GRCh37 chr2: 50,964,034-51,227,294 , GRCh38.p12 chr2: 50,736,896-51,000,156 NRXN1
    nsv3876341copy number variation1nstd102humanPathogenic GRCh37 chrX: 31,637,969-31,894,898 , GRCh38.p12 chrX: 31,619,852-31,876,781 DMD
    nsv3910578copy number variation1nstd102humanPathogenic NCBI36 chr6: 72,611,926-72,864,616 , GRCh38 chr6: 71,845,502-72,098,192 , GRCh37 chr6: 72,555,205-72,807,895 RIMS1
    nsv3895914copy number variation1nstd102humanPathogenic GRCh38 chr2: 50,754,975-50,999,091 , NCBI36 chr2: 50,835,617-51,079,733 , GRCh37 chr2: 50,982,113-51,226,229 NRXN1
    nsv1398664copy number variation1nstd102humanPathogenic GRCh37 chr2: 51,005,771-51,246,088 , GRCh38.p12 chr2: 50,778,633-51,018,950 NRXN1
    nsv3911706copy number variation1nstd102humanPathogenic NCBI36 chr7: 146,071,123-146,294,233 , GRCh38 chr7: 146,743,098-146,966,208 , GRCh37 chr7: 146,440,190-146,663,300 CNTNAP2
    nsv3911233copy number variation1nstd102humanPathogenic NCBI36 chr7: 68,931,633-69,141,367 , GRCh37 chr7: 69,293,697-69,503,431 , GRCh38 chr7: 69,828,711-70,038,445 AUTS2
    nsv3917821copy number variation1nstd102humanPathogenic NCBI36 chr7: 68,968,673-69,158,502 , GRCh38 chr7: 69,865,751-70,055,580 , GRCh37 chr7: 69,330,737-69,520,566 AUTS2
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