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Items: 1 to 20 of 39

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7095266copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,757,424-12,769,334 , GRCh38.p12 chr19: 12,646,610-12,658,520 MAN2B1
    nsv4454601copy number variation1nstd102humanPathogenic GRCh38 chr19: 12,656,561-12,661,386 , GRCh37 chr19: 12,767,375-12,772,200 MAN2B1
    nsv7095403copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,757,434-12,761,056 , GRCh38.p12 chr19: 12,646,620-12,650,242 MAN2B1
    nsv7095404copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,774,121-12,774,659 , GRCh38.p12 chr19: 12,663,307-12,663,845 MAN2B1
    nsv6310463copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,768,867-12,769,334 , GRCh38.p12 chr19: 12,658,053-12,658,520 MAN2B1
    nsv5980411copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,757,433-12,769,324 , GRCh38.p12 chr19: 12,646,619-12,658,510 MAN2B1
    nsv4682867copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,758,358-12,759,516 , GRCh38 chr19: 12,647,544-12,648,702 MAN2B1
    nsv7093314copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,767,841-12,767,974 , GRCh38 chr19: 12,657,027-12,657,160 MAN2B1
    nsv7095187copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,760,707-12,763,294 , GRCh38.p12 chr19: 12,649,893-12,652,480 MAN2B1
    nsv5673388copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,760,717-12,761,046 , GRCh38.p12 chr19: 12,649,903-12,650,232 MAN2B1
    nsv6634616copy number variation1nstd102humanUncertain significance GRCh37 chr19: 12,761,037-12,766,507 , GRCh38.p12 chr19: 12,650,223-12,655,693 MAN2B1
    nsv7095468copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,757,434-12,780,217 , GRCh38.p12 chr19: 12,646,620-12,669,403 MAN2B1, WDR83, 1 more genes
    nsv7095267copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,768,857-12,780,217 , GRCh38.p12 chr19: 12,658,043-12,669,403 MAN2B1, WDR83, 1 more genes
    nsv7095268copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,775,596-12,777,525 , GRCh38.p12 chr19: 12,664,782-12,666,711 MAN2B1, WDR83, 1 more genes
    nsv6310445copy number variation1nstd102humanUncertain significance GRCh37 chr19: 12,772,054-12,777,515 , GRCh38.p12 chr19: 12,661,240-12,666,701 MAN2B1, WDR83, 1 more genes
    nsv3922964copy number variation1nstd102humanPathogenic GRCh38 chr19: 10,319,474-13,777,860 , NCBI36 chr19: 10,291,150-13,749,674 , GRCh37 chr19: 10,430,150-13,888,674 MAN2B1, SWSAP1, 164 more genes
    nsv3922999copy number variation1nstd102humanPathogenic NCBI36 chr19: 10,240,071-12,946,266 , GRCh37.p13 chr19: 10,379,071-13,085,266 , GRCh38.p12 chr19: 10,268,395-12,974,452 MAN2B1, ZNF433, 155 more genes
    nsv3924466copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,496,978-14,126,833 , GRCh38 chr19: 11,525,163-14,155,021 , GRCh37 chr19: 11,635,978-14,265,833 MAN2B1, JUNB, 135 more genes
    nsv3912480copy number variation1nstd102humanPathogenic GRCh38 chr19: 12,580,427-14,742,673 , GRCh37 chr19: 12,691,241-14,853,485 , NCBI36 chr19: 12,552,241-14,714,485 MAN2B1, GET3, 100 more genes
    nsv3907864copy number variation1nstd102humanPathogenic GRCh37 chr19: 12,574,343-14,726,197 , GRCh38.p12 chr19: 12,463,529-14,615,385 MAN2B1, WDR83, 105 more genes
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