A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690505



Internal ID15427157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:40328072..40329411hg38UCSC Ensembl
Innerchr8:40185591..40186930hg19UCSC Ensembl
Innerchr8:40304748..40306087hg18UCSC Ensembl
Innerchr8:40304748..40306087hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg381340
hg191340
hg181340
hg171340
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)nssv690505
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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