A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572469



Internal ID16359878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46401993..46466539hg38UCSC Ensembl
Innerchr16:46435905..46500451hg19UCSC Ensembl
Innerchr16:44993406..45057952hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3864547
hg1964547
hg1864547
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n54
Supporting Variantsnssv856542, nssv856547, nssv856545, nssv856541, nssv856548, nssv856540, nssv856539, nssv856544, nssv856538, nssv856546, nssv856543
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572469
Frequency
Sample Size17421
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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