A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518918



Internal ID15446211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78856369..78937731hg38UCSC Ensembl
Innerchr5:78152192..78233554hg19UCSC Ensembl
Innerchr5:78187948..78269310hg18UCSC Ensembl
Innerchr5:78187948..78269310hg17UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3881363
hg1981363
hg1881363
hg1781363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv346n21
Supporting Variantsnssv696379
Samples
Known GenesARSB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518918
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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