A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019215



Internal ID18761749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:346521..661696hg38UCSC Ensembl
Innerchr5:346636..661811hg19UCSC Ensembl
Innerchr5:399636..714811hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38315176
hg19315176
hg18315176
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3744584
Samples
Known GenesAHRR, C5orf55, CEP72, EXOC3, LOC100996325, MIR4456, PP7080, SLC9A3, TPPP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019215
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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