A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428229



Internal ID18277993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:2618610..3156581hg38UCSC Ensembl
Innerchr10:2660802..3198773hg19UCSC Ensembl
Innerchr10:2650802..3188773hg18UCSC Ensembl
Cytoband10p15.2
Allele length
AssemblyAllele length
hg38537972
hg19537972
hg18537972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451791, nssv451792
SamplesNA19147, HGDP00460
Known GenesPFKP, PITRM1, PITRM1-AS1
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)nsv428229
Frequency
Sample Size62
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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