A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572710



Internal ID16013433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:57092295..57093237hg38UCSC Ensembl
Innerchr16:57126207..57127149hg19UCSC Ensembl
Innerchr16:55683708..55684650hg18UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg38943
hg19943
hg18943
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5140n54
Supporting Variantsnssv857766, nssv857763, nssv857764, nssv857767, nssv857762, nssv857765
Samples
Known GenesCPNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572710
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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