A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805930



Internal ID16099886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132726449..132729875hg38UCSC Ensembl
Innerchr12:133303035..133306461hg19UCSC Ensembl
Innerchr12:131813108..131816534hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg383427
hg193427
hg183427
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561122
Supporting Variants
Samples
Known GenesANKLE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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