A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv852512



Internal ID15799782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8768414..8890412hg38UCSC Ensembl
Innerchr16:8862271..8984269hg19UCSC Ensembl
Innerchr16:8769772..8891770hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38121999
hg19121999
hg18121999
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv571428
Supporting Variants
Samples
Known GenesABAT, CARHSP1, PMM2, TMEM186
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv852512
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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