A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572550



Internal ID16359959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48384646..48385751hg38UCSC Ensembl
Innerchr16:48418557..48419662hg19UCSC Ensembl
Innerchr16:46976058..46977163hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381106
hg191106
hg181106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5112n54
Supporting Variantsnssv856683, nssv856681, nssv856682
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572550
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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