A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452270



Internal ID18274050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11204127..11503666hg38UCSC Ensembl
Innerchr12:11357035..11656600hg19UCSC Ensembl
Innerchr12:11248302..11547867hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38299540
hg19299566
hg18299566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428272
Supporting Variants
SamplesHGDP01087
Known GenesPRB1, PRB2, PRB3, PRB4
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)nssv452270
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