A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518634



Internal ID15445927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:105058573..105099447hg38UCSC Ensembl
Innerchr5:104394274..104435148hg19UCSC Ensembl
Innerchr5:104422173..104463047hg18UCSC Ensembl
Innerchr5:104422173..104463047hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3840875
hg1940875
hg1840875
hg1740875
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv351n21
Supporting Variantsnssv696083
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518634
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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