A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519949



Internal ID15447242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:117669995..117719450hg38UCSC Ensembl
Innerchr5:117005690..117055145hg19UCSC Ensembl
Innerchr5:117033589..117083044hg18UCSC Ensembl
Innerchr5:117033589..117083044hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3849456
hg1949456
hg1849456
hg1749456
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv659757, nssv659600
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519949
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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