A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1106579



Internal ID15613079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11841238..12072225hg38UCSC Ensembl
Innerchr8:11698747..11929734hg19UCSC Ensembl
Innerchr8:11736156..11967143hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38230988
hg19230988
hg18230988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610293
Supporting Variants
Samples
Known GenesCTSB, DEFB130, DEFB134, DEFB135, DEFB136, LOC100133267
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1106579
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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