A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581267



Internal ID16368676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:30745362..30761984hg38UCSC Ensembl
Innerchr2:30968228..30984850hg19UCSC Ensembl
Innerchr2:30821732..30838354hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3816623
hg1916623
hg1816623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150198
Samples1780854485_A
Known GenesCAPN13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581267
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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