A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572689



Internal ID16360098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55808492..55827882hg38UCSC Ensembl
Innerchr16:55842404..55861794hg19UCSC Ensembl
Innerchr16:54399905..54419295hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3819391
hg1919391
hg1819391
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5136n54
Supporting Variantsnssv857721, nssv857722, nssv857720
Samples
Known GenesCES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572689
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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