A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572551



Internal ID16359960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48384770..48385492hg38UCSC Ensembl
Innerchr16:48418681..48419403hg19UCSC Ensembl
Innerchr16:46976182..46976904hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38723
hg19723
hg18723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv856685, nssv856684
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572551
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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