A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518397



Internal ID15445690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:54569777..54573746hg38UCSC Ensembl
Innerchr5:53865607..53869576hg19UCSC Ensembl
Innerchr5:53901364..53905333hg18UCSC Ensembl
Innerchr5:53901364..53905333hg17UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg383970
hg193970
hg183970
hg173970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695827
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518397
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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