A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572544



Internal ID16359953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:48384594..48385647hg38UCSC Ensembl
Innerchr16:48418505..48419558hg19UCSC Ensembl
Innerchr16:46976006..46977059hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381054
hg191054
hg181054
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5111n54
Supporting Variantsnssv856659, nssv856658, nssv856657, nssv856656
Samples
Known GenesMIR548AE2, SIAH1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572544
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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