A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450336



Internal ID18274853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17581079hg38UCSC Ensembl
Innerchr5:17364700..17581188hg19UCSC Ensembl
Innerchr5:17417700..17597918hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38216489
hg19216489
hg18180219
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428464
Supporting Variants
SamplesNA19113
Known GenesLOC401177
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)nssv450336
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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