A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572691



Internal ID16013414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55808492..55833327hg38UCSC Ensembl
Innerchr16:55842404..55867239hg19UCSC Ensembl
Innerchr16:54399905..54424740hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3824836
hg1924836
hg1824836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5137n54
Supporting Variantsnssv857726
Samples
Known GenesCES1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572691
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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