A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701513



Internal ID15438165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46031220..46266587hg38UCSC Ensembl
Innerchr8:46942842..47178209hg19UCSC Ensembl
Innerchr8:47062007..47297374hg18UCSC Ensembl
Innerchr8:47062007..47297374hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg38235368
hg19235368
hg18235368
hg17235368
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516063
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701513
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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