A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572717



Internal ID16360126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57092482..57093237hg38UCSC Ensembl
Innerchr16:57126394..57127149hg19UCSC Ensembl
Innerchr16:55683895..55684650hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38756
hg19756
hg18756
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5141n54
Supporting Variantsnssv857780, nssv857779, nssv857781
Samples
Known GenesCPNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572717
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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