A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516760



Internal ID15444053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149598542..149628958hg38UCSC Ensembl
Innerchr5:148978105..149008521hg19UCSC Ensembl
Innerchr5:148958298..148988714hg18UCSC Ensembl
Innerchr5:148958298..148988714hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830417
hg1930417
hg1830417
hg1730417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv674646, nssv658391, nssv687641, nssv661158, nssv671065, nssv685211, nssv670659, nssv678440
Samples
Known GenesARHGEF37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516760
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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