A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv609448



Internal ID16396857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:214984..331572hg38UCSC Ensembl
Innerchr8:164984..281572hg19UCSC Ensembl
Innerchr8:154984..271572hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38116589
hg19116589
hg18116589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1102100
Samples
Known GenesRPL23AP53, ZNF596
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv609448
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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