A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571616



Internal ID16012339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20340615..20438294hg38UCSC Ensembl
Innerchr16:20351937..20449616hg19UCSC Ensembl
Innerchr16:20259438..20357117hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3897680
hg1997680
hg1897680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4942n54
Supporting Variantsnssv853077
Samples
Known GenesACSM5, PDILT, UMOD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571616
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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