A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516293



Internal ID6013773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:96070205..96216387hg19UCSC Ensembl
Innerchr5:96095961..96242143hg18UCSC Ensembl
Innerchr5:96095961..96242143hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain+Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv667386, nssv700683, nssv673060
Samples
Known GenesCAST, ERAP1, ERAP2
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv516293
Frequency
Sample Size2026
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer