A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583140



Internal ID16023863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131299593..131540895hg38UCSC Ensembl
Innerchr2:132057166..132298468hg19UCSC Ensembl
Innerchr2:131773636..132014938hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38241303
hg19241303
hg18241303
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920061
Samples
Known GenesCCDC74A, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583140
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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