A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519790



Internal ID15447083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:135279325..135296324hg38UCSC Ensembl
Innerchr5:134615015..134632014hg19UCSC Ensembl
Innerchr5:134642914..134659913hg18UCSC Ensembl
Innerchr5:134642914..134659913hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3817000
hg1917000
hg1817000
hg1717000
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681341, nssv658661
Samples
Known GenesC5orf66
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519790
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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