A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150516



Internal ID15527160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8445407..8576080hg38UCSC Ensembl
Innerchr16:8495409..8626082hg19UCSC Ensembl
Innerchr16:8435410..8566083hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38130674
hg19130674
hg18130674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571404
Supporting Variants
SamplesHGDP00397
Known GenesTMEM114
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150516
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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