A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454010



Internal ID18274491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42504844..42606135hg38UCSC Ensembl
Innerchr22:42900850..43002141hg19UCSC Ensembl
Innerchr22:41230794..41332085hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38101292
hg19101292
hg18101292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428391
Supporting Variants
SamplesNA18498
Known GenesPOLDIP3, RRP7A, RRP7B, SERHL, SERHL2
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)nssv454010
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