A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703708



Internal ID15093674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:22106867..22163524hg38UCSC Ensembl
Innerchr8:21964378..22021037hg19UCSC Ensembl
Innerchr8:22020323..22076982hg18UCSC Ensembl
Innerchr8:22020323..22076982hg17UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3856658
hg1956660
hg1856660
hg1756660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527293
Supporting Variants
Samples
Known GenesHR, LGI3, NUDT18, REEP4, SFTPC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703708
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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