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Items: 1 to 20 of 126

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5943688copy number variation1nstd209human GRCh38 chr12: 47,769,648-47,769,709 , GRCh37.p13 chr12: 48,163,431-48,163,492 SLC48A1
    nsv5655621insertion1nstd207human GRCh38 chr12: 47,759,923-47,759,923 , GRCh37.p13 chr12: 48,153,706-48,153,706 SLC48A1
    nsv5564512copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 37,873,948-49,578,619 , GRCh38.p12 chr12: 37,480,146-49,184,836 ADCY6, ABCD2, 187 more genes
    nsv5499806copy number variation1nstd206human GRCh38 chr12: 47,769,649-47,769,714 , GRCh37.p13 chr12: 48,163,432-48,163,497 SLC48A1
    nsv5355891translocation1nstd200human GRCh38 chr12: 47,769,649-47,769,649 , GRCh38 chr12: 47,769,714-47,769,714 , GRCh37.p13 chr12: 48,163,432-48,163,432 , GRCh37.p13 chr12: 48,163,497-48,163,497 SLC48A1
    nsv5344056translocation1nstd200human GRCh37 chr12: 48,163,432-48,163,432 , GRCh37 chr12: 48,163,497-48,163,497 , GRCh38.p12 chr12: 47,769,649-47,769,649 , GRCh38.p12 chr12: 47,769,714-47,769,714 SLC48A1
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    nsv4762618insertion1nstd199human GRCh37 chr12: 48,153,682-48,153,682 , GRCh38.p12 chr12: 47,759,899-47,759,899 SLC48A1
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4437562insertion1nstd175human GRCh37 chr12: 48,153,648-48,153,648 , GRCh38.p12 chr12: 47,759,865-47,759,865 SLC48A1
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4196063copy number variation1nstd166human GRCh37.p13 chr12: 48,163,432-48,163,497 , GRCh38.p12 chr12: 47,769,649-47,769,714 SLC48A1
    nsv3947355insertion1nstd167human GRCh37 chr12: 48,153,706-48,153,706 , GRCh38.p12 chr12: 47,759,923-47,759,923 SLC48A1
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
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