A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571700



Internal ID16012423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:23923570..23930307hg38UCSC Ensembl
Innerchr16:23934891..23941628hg19UCSC Ensembl
Innerchr16:23842392..23849129hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg386738
hg196738
hg186738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4959n54
Supporting Variantsnssv854191
Samples
Known GenesPRKCB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571700
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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