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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7071286inversion1nstd229human GRCh38 chr20: 46,548,198-46,551,152 , GRCh37.p13 chr20: 45,176,837-45,179,791 OCSTAMP
    nsv7037721copy number variation1nstd229human GRCh38 chr20: 46,372,673-46,616,533 , GRCh37.p13 chr20: 45,001,312-45,245,172 ZNF663P, SLC13A3, 6 more genes
    nsv6599018inversion1nstd223human GRCh38 chr20: 46,548,197-46,551,154 , GRCh37.p13 chr20: 45,176,836-45,179,793 OCSTAMP
    nsv6546000copy number variation1nstd223human GRCh38 chr20: 46,539,801-46,544,300 , GRCh37.p13 chr20: 45,168,440-45,172,939 OCSTAMP
    nsv6290315copy number variation1nstd102humanPathogenic GRCh37 chr20: 42,985,044-48,599,046 , GRCh38.p12 chr20: 44,356,404-49,982,509 PABPC1L, LOC107985401, 170 more genes
    nsv6134165copy number variation1nstd213human GRCh37 chr20: 44,320,000-45,430,001 , GRCh38.p12 chr20: 45,691,361-46,801,362 MMP9, MKRN7P, 39 more genes
    nsv6133816copy number variation1nstd213human GRCh37 chr20: 43,650,000-45,170,001 , GRCh38.p12 chr20: 45,021,359-46,541,362 MMP9, PI3, 76 more genes
    nsv6110029insertion1nstd212human GRCh38 chr20: 46,543,305-46,543,305 , GRCh37.p13 chr20: 45,171,944-45,171,944 OCSTAMP
    nsv6048127copy number variation1nstd212human GRCh38 chr20: 46,543,201-46,543,314 , GRCh37.p13 chr20: 45,171,840-45,171,953 OCSTAMP
    nsv5977101insertion1nstd209human GRCh38 chr20: 46,543,305-46,543,305 , GRCh37.p13 chr20: 45,171,944-45,171,944 OCSTAMP
    nsv5666961insertion1nstd207human GRCh38 chr20: 46,543,310-46,543,310 , GRCh37.p13 chr20: 45,171,949-45,171,949 OCSTAMP
    nsv5025653copy number variation1nstd200human GRCh38 chr20: 46,372,673-46,616,535 , GRCh37.p13 chr20: 45,001,312-45,245,174 ZNF334, ELMO2, 6 more genes
    nsv4865602copy number variation1nstd200human GRCh37 chr20: 45,001,312-45,245,174 , GRCh38.p12 chr20: 46,372,673-46,616,535 MKRN7P, ZNF334, 6 more genes
    nsv4752756insertion1nstd199human GRCh37 chr20: 45,171,890-45,171,890 , GRCh38.p12 chr20: 46,543,251-46,543,251 OCSTAMP
    nsv4674805copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 34,980,430-46,806,549 , GRCh38.p12 chr20: 36,352,027-48,177,806 ADA, BPI, 266 more genes
    nsv4457624copy number variation1nstd102humanUncertain significance GRCh37 chr20: 45,002,981-45,243,034 , GRCh38.p12 chr20: 46,374,342-46,614,395 ZNF334, OCSTAMP, 6 more genes
    nsv4275139copy number variation1nstd166human GRCh37.p13 chr20: 45,001,312-45,245,065 , GRCh38.p12 chr20: 46,372,673-46,616,426 MKRN7P, ZNF334, 6 more genes
    nsv3942980insertion1nstd167human GRCh37 chr20: 45,178,446-45,178,446 , GRCh38.p12 chr20: 46,549,807-46,549,807 OCSTAMP
    nsv3920218copy number variation1nstd102humanPathogenic GRCh37 chr20: 80,198-62,908,674 , GRCh38 chr20: 99,557-64,277,321 , NCBI36 chr20: 28,198-62,379,118 MIR3646, NPEPL1, 1310 more genes
    nsv3915005copy number variation1nstd102humanPathogenic NCBI36 chr20: 42,849,759-62,379,118 , GRCh37 chr20: 43,416,345-62,908,674 , GRCh38 chr20: 44,787,704-64,277,321 FTLP1, RNA5SP487, 472 more genes
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