A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428120



Internal ID18624570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:103648959..103823693hg38UCSC Ensembl
Innerchr5:102984660..103159394hg19UCSC Ensembl
Innerchr5:103012559..103187293hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38174735
hg19174735
hg18174735
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450486
SamplesHGDP00463
Known Genes
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)nsv428120
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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