A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv678035



Internal ID15414687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113590484..113607123hg38UCSC Ensembl
Innerchr5:112926181..112942820hg19UCSC Ensembl
Innerchr5:112954080..112970719hg18UCSC Ensembl
Innerchr5:112954080..112970719hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3816640
hg1916640
hg1816640
hg1716640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520674
Supporting Variants
Samples
Known GenesYTHDC2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv678035
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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