A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518131



Internal ID15098738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:90452325..90485777hg38UCSC Ensembl
Innerchr5:89748142..89781594hg19UCSC Ensembl
Innerchr5:89783898..89817350hg18UCSC Ensembl
Innerchr5:89783898..89817350hg17UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3833453
hg1933453
hg1833453
hg1733453
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694061
Samples
Known GenesMBLAC2, POLR3G
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518131
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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