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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5964404insertion1nstd209human GRCh38 chr1: 15,192,449-15,192,449 , GRCh37.p13 chr1: 15,518,945-15,518,945 TMEM51, MFFP1
    nsv5883799copy number variation1nstd209human GRCh38 chr1: 15,191,357-15,198,557 , GRCh37.p13 chr1: 15,517,853-15,525,053 TMEM51, MFFP1
    nsv5880428copy number variation1nstd209human GRCh38 chr1: 15,188,988-15,224,212 , GRCh37.p13 chr1: 15,515,484-15,550,708 TMEM51, MFFP1
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5828235copy number variation2nstd209human GRCh38 chr1: 15,191,134-15,198,701 , GRCh37.p13 chr1: 15,517,630-15,525,197 MFFP1, TMEM51
    nsv5828234copy number variation1nstd209human GRCh38 chr1: 15,188,630-15,223,921 , GRCh37.p13 chr1: 15,515,126-15,550,417 MFFP1, TMEM51
    nsv5426254copy number variation1nstd206human GRCh38 chr1: 15,187,497-15,193,921 , GRCh37.p13 chr1: 15,513,993-15,520,417 MFFP1, TMEM51
    nsv4903100copy number variation1nstd200human GRCh38 chr1: 15,188,988-15,224,215 , GRCh37.p13 chr1: 15,515,484-15,550,711 TMEM51, MFFP1
    nsv4772182copy number variation1nstd200human GRCh37 chr1: 15,515,484-15,550,711 , GRCh38.p12 chr1: 15,188,988-15,224,215 MFFP1, TMEM51
    nsv4674125copy number variation1nstd102humanUncertain significance GRCh37 chr1: 15,352,819-15,745,220 , GRCh38.p12 chr1: 15,026,323-15,418,724 FHAD1, FHAD1-AS1, 8 more genes
    nsv4579468copy number variation1nstd183human GRCh37 chr1: 15,393,295-15,711,523 , GRCh38.p12 chr1: 15,066,799-15,385,027 KAZN, TMEM51, 6 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4047899copy number variation1nstd166human GRCh37.p13 chr1: 15,394,000-15,599,000 , GRCh38.p12 chr1: 15,067,504-15,272,504 KAZN, TMEM51, 5 more genes
    nsv4042108copy number variation1nstd166human GRCh37.p13 chr1: 15,515,428-15,550,711 , GRCh38.p12 chr1: 15,188,932-15,224,215 TMEM51, MFFP1
    nsv4042080copy number variation1nstd166human GRCh37.p13 chr1: 15,515,837-15,519,169 , GRCh38.p12 chr1: 15,189,341-15,192,673 MFFP1, TMEM51
    nsv4032945copy number variation1nstd166human GRCh37.p13 chr1: 15,516,013-15,528,468 , GRCh38.p12 chr1: 15,189,517-15,201,972 MFFP1, TMEM51
    nsv3913790copy number variation1nstd102humanPathogenic NCBI36 chr1: 10,370,726-15,979,918 , GRCh37.p13 chr1: 10,448,139-16,107,331 , GRCh38.p12 chr1: 10,388,082-15,780,836 PRAMEF15, LOC105376759, 149 more genes
    nsv3912305copy number variation1nstd102humanPathogenic NCBI36 chr1: 8,912,677-16,390,632 , GRCh37.p13 chr1: 8,990,090-16,518,045 , GRCh38.p12 chr1: 8,930,031-16,191,550 DDI2, RN7SL614P, 200 more genes
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