A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693248



Internal ID15429900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40328072..40333357hg38UCSC Ensembl
Innerchr8:40185591..40190876hg19UCSC Ensembl
Innerchr8:40304748..40310033hg18UCSC Ensembl
Innerchr8:40304748..40310033hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg385286
hg195286
hg185286
hg175286
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515952
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693248
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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