A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv560390



Internal ID16347799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:118318531..118340427hg38UCSC Ensembl
Innerchr12:118756336..118778232hg19UCSC Ensembl
Innerchr12:117240719..117262615hg18UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3821897
hg1921897
hg1821897
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv803309
Samples
Known GenesTAOK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv560390
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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