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Items: 20

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3888482copy number variation1nstd102humannot provided GRCh38 chr6: 147,348,950-147,402,441 , GRCh37 chr6: 147,670,086-147,723,577 STXBP5
    nsv3883986copy number variation1nstd102humannot provided GRCh38 chr6: 147,364,344-147,402,441 , GRCh37 chr6: 147,685,480-147,723,577 STXBP5
    esv3648330copy number variation1estd216humannot provided GRCh38.p12 chr6: 147,348,950-147,402,441 , GRCh37 chr6: 147,670,086-147,723,577 STXBP5
    esv3648331copy number variation1estd216humannot provided GRCh38.p12 chr6: 147,364,344-147,402,441 , GRCh37 chr6: 147,685,480-147,723,577 STXBP5
    nsv3891146copy number variation1nstd102humanPathogenic GRCh37 chr6: 139,513,020-150,389,231 , GRCh38.p12 chr6: 139,191,883-150,068,095 STXBP5, UST, 131 more genes
    nsv3890752copy number variation1nstd102humanPathogenic GRCh37 chr6: 144,075,695-152,337,005 , GRCh38.p12 chr6: 143,754,558-152,015,870 STXBP5, LOC105378052, 109 more genes
    nsv3920651copy number variation1nstd102humanPathogenic GRCh38 chr6: 144,932,561-152,985,364 , NCBI36 chr6: 145,295,390-153,348,192 , GRCh37 chr6: 145,253,697-153,306,499 STXBP5, PPP1R14C, 107 more genes
    nsv3904637copy number variation1nstd102humanPathogenic GRCh37 chr6: 144,947,731-150,266,155 , GRCh38.p12 chr6: 144,626,595-149,945,019 STXBP5, LOC107986660, 59 more genes
    nsv3910985copy number variation1nstd102humanPathogenic NCBI36 chr6: 146,843,948-151,790,457 , GRCh37 chr6: 146,802,255-151,748,764 , GRCh38 chr6: 146,481,119-151,427,629 STXBP5, RMND1, 77 more genes
    nsv3877040copy number variation1nstd102humanPathogenic GRCh37 chr6: 60,107-171,054,786 , GRCh38.p12 chr6: 60,107-170,745,698 STXBP5, LOC105378061, 2914 more genes
    nsv3879811copy number variation1nstd102humanPathogenic GRCh37 chr6: 108,666-170,980,171 , GRCh38.p12 chr6: 108,666-170,671,083 STXBP5, RNU6-411P, 2910 more genes
    nsv3887898copy number variation2nstd102humanPathogenic GRCh37 chr6: 156,975-170,919,482 , GRCh38.p12 chr6: 156,975-170,610,394 STXBP5, SOD1P1, 2905 more genes
    nsv3889814copy number variation1nstd102humanPathogenic GRCh37 chr6: 165,632-170,919,470 , GRCh38.p12 chr6: 165,632-170,610,382 STXBP5, ITPR3, 2905 more genes
    nsv3911993copy number variation1nstd102humanPathogenic NCBI36 chr6: 133,900,102-166,209,023 , GRCh38 chr6: 133,537,271-165,875,545 , GRCh37 chr6: 133,858,409-166,289,033 STXBP5, LOC105369171, 418 more genes
    nsv3915150copy number variation1nstd102humanPathogenic NCBI36 chr6: 124,322,082-156,156,864 , GRCh37.p13 chr6: 124,280,383-156,115,172 , GRCh38.p12 chr6: 123,959,238-155,794,038 STXBP5, KATNA1, 422 more genes
    nsv3920975copy number variation1nstd102humanPathogenic GRCh37 chr6: 141,454,127-169,739,666 , GRCh38 chr6: 141,132,990-169,339,571 , NCBI36 chr6: 141,495,820-169,481,591 STXBP5, UST-AS2, 394 more genes
    nsv3911164copy number variation1nstd102humanPathogenic NCBI36 chr6: 135,720,981-155,817,943 , GRCh37 chr6: 135,679,288-155,776,251 , GRCh38 chr6: 135,358,150-155,455,117 STXBP5, HYMAI, 263 more genes
    nsv3898363copy number variation1nstd102humanUncertain significance GRCh37 chr6: 146,652,354-148,108,890 , GRCh38.p12 chr6: 146,331,218-147,787,754 STXBP5, LUADT1, 12 more genes
    nsv3901565copy number variation1nstd102humanUncertain significance GRCh37 chr6: 147,414,837-148,054,286 , GRCh38.p12 chr6: 147,093,701-147,733,150 STXBP5, SAMD5, 4 more genes
    nsv6313499copy number variation1nstd102humanUncertain significance GRCh37 chr6: 145,449,900-148,319,443 , GRCh38.p12 chr6: 145,128,764-147,998,307 STXBP5, LOC105378039, 21 more genes
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