A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690687



Internal ID15427339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113575468..113607123hg38UCSC Ensembl
Innerchr5:112911165..112942820hg19UCSC Ensembl
Innerchr5:112939064..112970719hg18UCSC Ensembl
Innerchr5:112939064..112970719hg17UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3831656
hg1931656
hg1831656
hg1731656
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)nssv690687
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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