A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv805962



Internal ID16099918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132868848..132882684hg38UCSC Ensembl
Innerchr12:133445434..133459270hg19UCSC Ensembl
Innerchr12:131955507..131969343hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3813837
hg1913837
hg1813837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv561139
Supporting Variants
Samples
Known GenesCHFR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv805962
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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