A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612037



Internal ID16399446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862171..117862929hg38UCSC Ensembl
Innerchr8:118874410..118875168hg19UCSC Ensembl
Innerchr8:118943591..118944349hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38759
hg19759
hg18759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12291n54
Supporting Variantsnssv1120107
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612037
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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