A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571617



Internal ID16012340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:20344843..20466152hg38UCSC Ensembl
Innerchr16:20356165..20477474hg19UCSC Ensembl
Innerchr16:20263666..20384975hg18UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38121310
hg19121310
hg18121310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4942n54
Supporting Variantsnssv853078
Samples
Known GenesACSM2A, ACSM5, PDILT, UMOD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571617
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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