A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571822



Internal ID16012545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31205588..31214084hg38UCSC Ensembl
Innerchr16:31216909..31225405hg19UCSC Ensembl
Innerchr16:31124410..31132906hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg388497
hg198497
hg188497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4990n54
Supporting Variantsnssv855499, nssv855497, nssv855498
Samples
Known GenesTRIM72
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571822
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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