A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453412



Internal ID18273883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:33289079..33710106hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg18421028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428341
Supporting Variants
SamplesHGDP00984
Known GenesLOC440434, MRPL45, TBC1D3, TBC1D3C, TBC1D3F, YWHAEP7
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)nssv453412
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