A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698452



Internal ID15435104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:143038093..143150395hg38UCSC Ensembl
Innerchr5:142417658..142529960hg19UCSC Ensembl
Innerchr5:142397851..142510153hg18UCSC Ensembl
Innerchr5:142397851..142510153hg17UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38112303
hg19112303
hg18112303
hg17112303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522807
Supporting Variants
Samples
Known GenesARHGAP26
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698452
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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