A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571701



Internal ID16012424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23923570..23930631hg38UCSC Ensembl
Innerchr16:23934891..23941952hg19UCSC Ensembl
Innerchr16:23842392..23849453hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg387062
hg197062
hg187062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4959n54
Supporting Variantsnssv854194, nssv854195, nssv854193, nssv854192
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571701
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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