A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450383



Internal ID18273555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21149044..21537258hg38UCSC Ensembl
Innerchr5:21149153..21537367hg19UCSC Ensembl
Innerchr5:21184910..21573124hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38388215
hg19388215
hg18388215
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428114
Supporting Variants
SamplesHGDP00472
Known GenesGUSBP1
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)nssv450383
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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