A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450392



Internal ID18273903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21334276..21598881hg38UCSC Ensembl
Innerchr5:21334385..21598990hg19UCSC Ensembl
Innerchr5:21370142..21634747hg18UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38264606
hg19264606
hg18264606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428114
Supporting Variants
SamplesHGDP00984
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)nssv450392
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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