A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612916



Internal ID16053639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144044224..144056712hg38UCSC Ensembl
Innerchr8:145099125..145111615hg19UCSC Ensembl
Innerchr8:145171113..145183603hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3812489
hg1912491
hg1812491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125770
Samples
Known GenesOPLAH, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612916
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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