A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700475



Internal ID15090441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:56004607..56115548hg38UCSC Ensembl
Innerchr8:56917166..57028107hg19UCSC Ensembl
Innerchr8:57079720..57190661hg18UCSC Ensembl
Innerchr8:57079720..57190661hg17UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38110942
hg19110942
hg18110942
hg17110942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524526
Supporting Variants
Samples
Known GenesLYN, MOS, RPS20, SNORD54
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700475
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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