A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv832989



Internal ID15780259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99522709..100097807hg38UCSC Ensembl
Innerchr14:99989046..100564144hg19UCSC Ensembl
Innerchr14:99058799..99633897hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38575099
hg19575099
hg18575099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv565733
Supporting Variants
Samples
Known GenesCCDC85C, CYP46A1, EML1, EVL, HHIPL1, MIR5698
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv832989
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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