A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612764



Internal ID16053487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143211426..143227887hg38UCSC Ensembl
Innerchr8:144293247..144310057hg19UCSC Ensembl
Innerchr8:144364622..144381432hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3816462
hg1916811
hg1816811
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125262
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612764
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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