A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1107474



Internal ID15613974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22045805..22251098hg38UCSC Ensembl
Innerchr8:21903316..22108611hg19UCSC Ensembl
Innerchr8:21959262..22164556hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38205294
hg19205296
hg18205295
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv610766
Supporting Variants
Samples
Known GenesBMP1, DMTN, FAM160B2, FGF17, HR, LGI3, MIR320A, NUDT18, PHYHIP, POLR3D, REEP4, SFTPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1107474
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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