A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695080



Internal ID15085046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54966408..55196549hg38UCSC Ensembl
Innerchr17:53043769..53273910hg19UCSC Ensembl
Innerchr17:50398768..50628909hg18UCSC Ensembl
Innerchr17:50398768..50628909hg17UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38230142
hg19230142
hg18230142
hg17230142
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522299
Supporting Variants
Samples
Known GenesCOX11, STXBP4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695080
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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