A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564189



Internal ID16004912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:33461004..33564881hg38UCSC Ensembl
Innerchr14:33930210..34034087hg19UCSC Ensembl
Innerchr14:32999961..33103838hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38103878
hg19103878
hg18103878
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148944
Samples1780862457_A
Known GenesNPAS3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564189
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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