A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451985



Internal ID18273665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133245214..133641535hg38UCSC Ensembl
Innerchr10:135058718..135455039hg19UCSC Ensembl
Innerchr10:134908709..135305029hg18UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38396322
hg19396322
hg18396321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428243
Supporting Variants
SamplesHGDP00473
Known GenesADAM8, CALY, CYP2E1, ECHS1, FRG2B, FUOM, MIR202, MIR202HG, MIR3944, MTG1, PAOX, PRAP1, SCART1, SPRN, SPRNP1, SYCE1, TUBGCP2, ZNF511
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)nssv451985
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