A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv572468



Internal ID16359877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:46401993..46466283hg38UCSC Ensembl
Innerchr16:46435905..46500195hg19UCSC Ensembl
Innerchr16:44993406..45057696hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3864291
hg1964291
hg1864291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5102n54
Supporting Variantsnssv856534, nssv856533, nssv856535, nssv856536, nssv856537
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv572468
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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