A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148952



Internal ID15876605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:38671332..38970902hg38UCSC Ensembl
Innerchr14:39140536..39440106hg19UCSC Ensembl
Innerchr14:38210287..38509857hg18UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38299571
hg19299571
hg18299571
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564416
Supporting Variants
SamplesHGDP00866
Known GenesLINC00639
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148952
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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