A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612955



Internal ID16053678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144494912..144502322hg38UCSC Ensembl
Innerchr8:145720295..145727705hg19UCSC Ensembl
Innerchr8:145691103..145698513hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg387411
hg197411
hg187411
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125817
Samples
Known GenesPPP1R16A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612955
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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