A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571690



Internal ID16012413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23922978..23927891hg38UCSC Ensembl
Innerchr16:23934299..23939212hg19UCSC Ensembl
Innerchr16:23841800..23846713hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg384914
hg194914
hg184914
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4958n54
Supporting Variantsnssv854168
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571690
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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