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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5942139copy number variation1nstd209human GRCh38 chr12: 47,185,517-47,185,947 , GRCh37.p13 chr12: 47,579,300-47,579,730 PCED1B, MIR4698
    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
    nsv5513128copy number variation1nstd206human GRCh38 chr12: 47,185,518-47,185,968 , GRCh37.p13 chr12: 47,579,301-47,579,751 PCED1B, MIR4698
    nsv5340748translocation1nstd200human GRCh37 chr12: 47,579,331-47,579,331 , GRCh37 chr12: 47,579,731-47,579,731 , GRCh38.p12 chr12: 47,185,948-47,185,948 , GRCh38.p12 chr12: 47,185,548-47,185,548 PCED1B, MIR4698
    nsv5029954inversion1nstd200human GRCh38 chr12: 38,328,571-48,487,625 , GRCh37.p13 chr12: 38,722,373-48,881,408 , MESDP1, 138 more genes
    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
    nsv4680568copy number variation1nstd189human GRCh38.p12 chr12: 47,160,564-47,348,591 , GRCh37.p13 chr12: 47,554,347-47,742,374 PCED1B, PCED1B-AS1, 4 more genes
    nsv4676034copy number variation1nstd102humanUncertain significance GRCh37 chr12: 47,482,166-47,687,667 , GRCh38.p12 chr12: 47,088,383-47,293,884 LOC105369746, IFITM3P6, 3 more genes
    nsv4675446copy number variation1nstd102humanUncertain significance GRCh37 chr12: 47,282,530-48,028,524 , GRCh38.p12 chr12: 46,888,747-47,634,741 MIR4698, LINC02416, 12 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv4198894copy number variation1nstd166human GRCh37.p13 chr12: 47,579,331-47,579,999 , GRCh38.p12 chr12: 47,185,548-47,186,216 MIR4698, PCED1B
    nsv4195062copy number variation1nstd166human GRCh37.p13 chr12: 47,579,331-47,579,731 , GRCh38.p12 chr12: 47,185,548-47,185,948 PCED1B, MIR4698
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3916928copy number variation1nstd102humanPathogenic NCBI36 chr12: 42,194,761-46,386,352 , GRCh37.p13 chr12: 43,908,494-48,100,085 , GRCh38.p12 chr12: 43,514,691-47,706,302 RPAP3-DT, TMEM117, 51 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
    nsv3898591copy number variation1nstd102humanPathogenic GRCh37 chr12: 37,857,750-49,791,459 , GRCh38.p12 chr12: 37,463,948-49,397,676 ZNF75BP, YAF2, 195 more genes
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