A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612039



Internal ID16399448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:117862224..117862823hg38UCSC Ensembl
Innerchr8:118874463..118875062hg19UCSC Ensembl
Innerchr8:118943644..118944243hg18UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38600
hg19600
hg18600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12291n54
Supporting Variantsnssv1120110
Samples
Known GenesEXT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612039
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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