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Items: 1 to 20 of 36

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095907copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,466,782-57,485,884 , GRCh38.p12 chr20: 58,891,727-58,910,829 GNAS
    nsv7095799copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,485,079-57,487,993 , GRCh38.p12 chr20: 58,910,024-58,912,938 GNAS
    nsv6311087copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,484,385-57,485,156 , GRCh38.p12 chr20: 58,909,330-58,910,101 GNAS
    nsv7095908copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,478,707-57,478,866 , GRCh38.p12 chr20: 58,903,652-58,903,811 GNAS
    nsv7095906copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr20: 57,466,782-57,466,940 , GRCh38.p12 chr20: 58,891,727-58,891,885 GNAS
    nsv4728701copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 57,474,232-57,484,204 , GRCh38 chr20: 58,899,177-58,909,149 GNAS
    nsv3903943copy number variation1nstd102humanBenign GRCh37 chr20: 57,465,451-57,469,073 , GRCh38.p12 chr20: 58,890,396-58,894,018 GNAS
    nsv7137056copy number variation1nstd102humanPathogenic GRCh38 chr20: 58,665,428-58,669,794 , GRCh37 chr20: 57,240,484-57,244,850 STX16-NPEPL1, STX16
    nsv4716424copy number variation1nstd102humanPathogenic GRCh38 chr20: 58,668,511-58,671,488 , GRCh37 chr20: 57,243,567-57,246,544 STX16-NPEPL1, STX16
    nsv4358949copy number variation1nstd102humanPathogenic GRCh37 chr20: 57,244,540-57,246,216 , GRCh38.p12 chr20: 58,669,484-58,671,160 STX16, STX16-NPEPL1
    nsv3903981copy number variation1nstd102humanBenign GRCh37 chr20: 57,463,993-57,469,073 , GRCh38.p12 chr20: 58,888,938-58,894,018 GNAS, LOC101927932
    nsv3911358copy number variation1nstd102humanBenign NCBI36 chr20: 56,896,329-56,899,320 , GRCh37 chr20: 57,462,934-57,465,925 , GRCh38 chr20: 58,887,879-58,890,870 GNAS, LOC101927932
    nsv3918967copy number variation1nstd102humanBenign NCBI36 chr20: 56,896,929-56,898,149 , GRCh37 chr20: 57,463,534-57,464,754 , GRCh38 chr20: 58,888,479-58,889,699 GNAS, LOC101927932
    nsv3910724copy number variation1nstd102humanBenign NCBI36 chr20: 56,859,060-56,859,993 , GRCh37 chr20: 57,425,665-57,426,598 , GRCh38 chr20: 58,850,610-58,851,543 GNAS, GNAS-AS1
    nsv997062copy number variation2nstd45humanPathogenic GRCh37 chr20: 57,414,773-57,486,251 , GRCh38.p12 chr20: 58,839,718-58,911,196 GNAS, GNAS-AS1, 1 more genes
    nsv6314094copy number variation1nstd102humanPathogenic GRCh37 chr20: 55,292,205-57,866,365 , GRCh38.p12 chr20: 56,717,149-59,291,310 GNAS, PCK1, 58 more genes
    nsv3892750copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,961,294 , GRCh38.p12 chr20: 82,603-64,329,941 GNAS, TGIF2-RAB5IF, 1314 more genes
    nsv3905072copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,948,788 , GRCh38.p12 chr20: 82,603-64,317,435 GNAS, LRRN4, 1313 more genes
    nsv3895314copy number variation2nstd102humanPathogenic GRCh37 chr20: 61,569-62,915,555 , GRCh38.p12 chr20: 80,928-64,284,202 GNAS, PKIG, 1311 more genes
    nsv3896520copy number variation1nstd102humanPathogenic GRCh37 chr20: 63,244-62,912,463 , GRCh38.p12 chr20: 82,603-64,281,110 GNAS, COMMD7, 1311 more genes
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