A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704284



Internal ID15094250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:178232074..178248216hg38UCSC Ensembl
Innerchr5:177659075..177675217hg19UCSC Ensembl
Innerchr5:177591681..177607823hg18UCSC Ensembl
Innerchr5:177591681..177607823hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3816143
hg1916143
hg1816143
hg1716143
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527792
Supporting Variants
Samples
Known GenesCOL23A1, PHYKPL
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704284
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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