A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612896



Internal ID16053619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143778707..143874693hg38UCSC Ensembl
Innerchr8:144860877..144948861hg19UCSC Ensembl
Innerchr8:144932865..145020849hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3895987
hg1987985
hg1887985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125739
Samples
Known GenesEPPK1, MIR6845, MIR937, NRBP2, PUF60, SCRIB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612896
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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