A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010162



Internal ID18752693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131339734..131516504hg38UCSC Ensembl
Innerchr2:132097307..132274077hg19UCSC Ensembl
Innerchr2:131813777..131990547hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38176771
hg19176771
hg18176771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4080n100
Supporting Variantsnssv3580867
Samples
Known GenesLINC01120, LOC150776, LOC401010, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010162
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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