A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452268



Internal ID18273504
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11175840..11392607hg38UCSC Ensembl
Innerchr12:11328439..11545541hg19UCSC Ensembl
Innerchr12:11219706..11436808hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38216768
hg19217103
hg18217103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428272
Supporting Variants
SamplesHGDP00471
Known GenesLOC100129361, PRB1, PRB2, PRB3, PRB4, TAS2R42
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)nssv452268
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