A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571679



Internal ID16359088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23148644..23149484hg38UCSC Ensembl
Innerchr16:23159965..23160805hg19UCSC Ensembl
Innerchr16:23067466..23068306hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38841
hg19841
hg18841
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4955n54
Supporting Variantsnssv854142, nssv854144, nssv854143
Samples
Known GenesUSP31
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571679
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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