A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572591



Internal ID16360000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:49946840..50084334hg38UCSC Ensembl
Innerchr16:49980751..50118245hg19UCSC Ensembl
Innerchr16:48538252..48675746hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38137495
hg19137495
hg18137495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv857289
Samples
Known GenesCNEP1R1, HEATR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572591
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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