A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699450



Internal ID15436102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56318993..56353557hg38UCSC Ensembl
Innerchr16:56352905..56387469hg19UCSC Ensembl
Innerchr16:54910406..54944970hg18UCSC Ensembl
Innerchr16:54910406..54944970hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3834565
hg1934565
hg1834565
hg1734565
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523649
Supporting Variants
Samples
Known GenesGNAO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699450
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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