A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573390



Internal ID16014113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83162838..83168071hg38UCSC Ensembl
Innerchr16:83196443..83201676hg19UCSC Ensembl
Innerchr16:81753944..81759177hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg385234
hg195234
hg185234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5257n54
Supporting Variantsnssv861968
Samples
Known GenesCDH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573390
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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