A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521254



Internal ID15448547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:20647626..20778939hg38UCSC Ensembl
Innerchr5:20647735..20779048hg19UCSC Ensembl
Innerchr5:20683492..20814805hg18UCSC Ensembl
Innerchr5:20683492..20814805hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38131314
hg19131314
hg18131314
hg17131314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697870
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521254
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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