A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685211



Internal ID15421863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149598542..149628840hg38UCSC Ensembl
Innerchr5:148978105..149008403hg19UCSC Ensembl
Innerchr5:148958298..148988596hg18UCSC Ensembl
Innerchr5:148958298..148988596hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3830299
hg1930299
hg1830299
hg1730299
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516760
Supporting Variants
Samples
Known GenesARHGEF37
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685211
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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