A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528590



Internal ID15109197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22034428..22168131hg38UCSC Ensembl
Innerchr8:21891939..22025644hg19UCSC Ensembl
Innerchr8:21947885..22081589hg18UCSC Ensembl
Innerchr8:21947885..22081589hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38133704
hg19133706
hg18133705
hg17133705
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705215
Samples
Known GenesBMP1, DMTN, FAM160B2, FGF17, HR, LGI3, NPM2, NUDT18, REEP4, SFTPC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528590
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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