A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv561135



Internal ID16001858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132860654..132936623hg38UCSC Ensembl
Innerchr12:133437240..133513209hg19UCSC Ensembl
Innerchr12:131947313..132023282hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3875970
hg1975970
hg1875970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv805952
Samples
Known GenesCHFR, ZNF605
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv561135
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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