A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700464



Internal ID15437116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56343836..56344699hg38UCSC Ensembl
Innerchr16:56377748..56378611hg19UCSC Ensembl
Innerchr16:54935249..54936112hg18UCSC Ensembl
Innerchr16:54935249..54936112hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
hg17864
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519346
Supporting Variants
Samples
Known GenesGNAO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700464
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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