A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700196



Internal ID15436848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:28060851..28065871hg38UCSC Ensembl
Innerchr8:27918368..27923388hg19UCSC Ensembl
Innerchr8:27974287..27979307hg18UCSC Ensembl
Innerchr8:27974287..27979307hg17UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg385021
hg195021
hg185021
hg175021
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524295
Supporting Variants
Samples
Known GenesNUGGC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700196
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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