A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572546



Internal ID16359955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48384646..48385440hg38UCSC Ensembl
Innerchr16:48418557..48419351hg19UCSC Ensembl
Innerchr16:46976058..46976852hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38795
hg19795
hg18795
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv856675, nssv856674, nssv856673
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572546
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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