A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428458



Internal ID18278222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:93781..338972hg38UCSC Ensembl
Innerchr5:93896..339087hg19UCSC Ensembl
Innerchr5:146896..392087hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38245192
hg19245192
hg18245192
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450262
SamplesNA19113
Known GenesAHRR, CCDC127, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nsv428458
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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