A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612140



Internal ID16052863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:123592519..123726378hg38UCSC Ensembl
Innerchr8:124604759..124738618hg19UCSC Ensembl
Innerchr8:124673940..124807799hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38133860
hg19133860
hg18133860
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1120520
Samples
Known GenesANXA13, KLHL38
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612140
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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