A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583142



Internal ID16023865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131319806..131477413hg38UCSC Ensembl
Innerchr2:132077379..132234986hg19UCSC Ensembl
Innerchr2:131793849..131951456hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38157608
hg19157608
hg18157608
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv920063, nssv920064
Samples
Known GenesLINC01120, LOC401010, RNU6-81P, TUBA3D, WTH3DI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583142
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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