A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693391



Internal ID15430043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:46203447..46250820hg38UCSC Ensembl
Innerchr8:47115069..47162442hg19UCSC Ensembl
Innerchr8:47234234..47281607hg18UCSC Ensembl
Innerchr8:47234234..47281607hg17UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg3847374
hg1947374
hg1847374
hg1747374
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)nssv693391
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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