A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612043



Internal ID16399452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862324..117862962hg38UCSC Ensembl
Innerchr8:118874563..118875201hg19UCSC Ensembl
Innerchr8:118943744..118944382hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38639
hg19639
hg18639
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12291n54
Supporting Variantsnssv1120114
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612043
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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