A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450371



Internal ID18273532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:17364591..17721460hg38UCSC Ensembl
Innerchr5:17364700..17721569hg19UCSC Ensembl
Innerchr5:17417700..17757290hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38356870
hg19356870
hg18339591
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428464
Supporting Variants
SamplesHGDP00471
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)nssv450371
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer