A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv573388



Internal ID16014111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83100852..83122118hg38UCSC Ensembl
Innerchr16:83134457..83155723hg19UCSC Ensembl
Innerchr16:81691958..81713224hg18UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3821267
hg1921267
hg1821267
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149323
Samples1780854198_A
Known GenesCDH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv573388
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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