A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006249



Internal ID19095467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68506273..68639385hg38UCSC Ensembl
Innerchr4:69371991..69505103hg19UCSC Ensembl
Innerchr4:69054586..69187698hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38133113
hg19133113
hg18133113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5263n100
Supporting Variantsnssv3626386, nssv3743150, nssv3627192, nssv3626413, nssv3743116, nssv3627196, nssv3626389, nssv3742726, nssv3742714, nssv3627189, nssv3626429, nssv3627227, nssv3626382, nssv3743119, nssv3627222, nssv3626432, nssv3742719, nssv3626409, nssv3743155, nssv3627215, nssv3627206, nssv3627195, nssv3626397, nssv3742724, nssv3626420, nssv3627225, nssv3627224, nssv3627216, nssv3627179, nssv3627177, nssv3627213, nssv3626411, nssv3626390, nssv3626400, nssv3743153, nssv3626423, nssv3627233, nssv3740846, nssv3742739, nssv3626431, nssv3743145, nssv3743139, nssv3743131, nssv3742738, nssv3627181, nssv3626428, nssv3627186, nssv3742741, nssv3626425, nssv3626404, nssv3743128, nssv3743136, nssv3627226, nssv3626392, nssv3743156, nssv3743147, nssv3627223, nssv3626396, nssv3626418, nssv3743126, nssv3627198, nssv3626407, nssv3626406, nssv3743152, nssv3743154, nssv3627182, nssv3742722, nssv3627218, nssv3626380, nssv3742733, nssv3743121, nssv3626408, nssv3742723, nssv3627204, nssv3743137, nssv3626416, nssv3743146, nssv3627190, nssv3627203, nssv3626399, nssv3626393, nssv3626427, nssv3743135, nssv3743132, nssv3626426, nssv3742735, nssv3626395, nssv3743130, nssv3742737, nssv3743125, nssv3627229, nssv3742727, nssv3627201, nssv3742734, nssv3626387, nssv3626394, nssv3742742, nssv3627194, nssv3627178, nssv3627212, nssv3743129, nssv3742721, nssv3627228, nssv3742743, nssv3740847, nssv3627176, nssv3627214, nssv3627183, nssv3627217, nssv3627232, nssv3743127, nssv3627184, nssv3743115, nssv3627193, nssv3627187, nssv3626414, nssv3627175, nssv3743133, nssv3627207, nssv3626379, nssv3743142, nssv3627202, nssv3627200, nssv3742716, nssv3626383, nssv3626405, nssv3743117, nssv3626433, nssv3626419, nssv3626430, nssv3626434, nssv3743124, nssv3627220, nssv3743118, nssv3742725, nssv3743123, nssv3626391, nssv3743140, nssv3743122, nssv3627208, nssv3626401, nssv3742715, nssv3626388, nssv3743120, nssv3627219, nssv3627230, nssv3627199, nssv3742744, nssv3743134, nssv3626385, nssv3626381, nssv3627174, nssv3626412, nssv3626435, nssv3740845, nssv3743138, nssv3742736, nssv3627209, nssv3626403, nssv3626417, nssv3626410, nssv3627188, nssv3742745, nssv3742720, nssv3742740, nssv3627221, nssv3743149, nssv3627185, nssv3626421, nssv3742732, nssv3743151, nssv3742730, nssv3743148, nssv3627191, nssv3626398, nssv3742717, nssv3626424, nssv3626415, nssv3742731, nssv3627197, nssv3743143, nssv3627211, nssv3742728, nssv3627231, nssv3626384, nssv3627205, nssv3742729, nssv3743141, nssv3743144, nssv3627180, nssv3626422, nssv3626402, nssv3742718, nssv3627210
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1006249
Frequency
Sample Size11257
Observed Gain194
Observed Loss0
Observed Complex0
Frequencyn/a


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