A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581178



Internal ID16368587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23637306..23707109hg38UCSC Ensembl
Innerchr2:23860176..23929979hg19UCSC Ensembl
Innerchr2:23713681..23783483hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3869804
hg1969804
hg1869803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150413
SamplesNINDS_111
Known GenesKLHL29
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581178
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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