A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612731



Internal ID16400140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143207460..143213308hg38UCSC Ensembl
Innerchr8:144288864..144295183hg19UCSC Ensembl
Innerchr8:144360239..144366558hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385849
hg196320
hg186320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124962
Samples
Known GenesGPIHBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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