A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428253



Internal ID18624703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:48112444..48503429hg38UCSC Ensembl
Innerchr11:48133996..48524981hg19UCSC Ensembl
Innerchr11:48090572..48481557hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38390986
hg19390986
hg18390986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452072
SamplesHGDP00984
Known GenesOR4A47, OR4B1, OR4C3, OR4C45, OR4S1, OR4X1, OR4X2, PTPRJ
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)nsv428253
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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