A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573401



Internal ID16014124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83679394..83940461hg38UCSC Ensembl
Innerchr16:83712999..83974066hg19UCSC Ensembl
Innerchr16:82270500..82531567hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38261068
hg19261068
hg18261068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv861987
Samples
Known GenesCDH13, HSBP1, MLYCD
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573401
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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