A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1117004



Internal ID15623504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75288007..75914413hg38UCSC Ensembl
Innerchr8:76200242..76826648hg19UCSC Ensembl
Innerchr8:76362797..76989203hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38626407
hg19626407
hg18626407
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv611561
Supporting Variants
Samples
Known GenesCASC9, HNF4G
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1117004
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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