A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572711



Internal ID16013434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57092346..57092959hg38UCSC Ensembl
Innerchr16:57126258..57126871hg19UCSC Ensembl
Innerchr16:55683759..55684372hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38614
hg19614
hg18614
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5138n54
Supporting Variantsnssv857768
Samples
Known GenesCPNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572711
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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