A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428285



Internal ID18278049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132065104..132208513hg38UCSC Ensembl
Innerchr12:132549649..132693058hg19UCSC Ensembl
Innerchr12:131115602..131259011hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38143410
hg19143410
hg18143410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452348
SamplesNA18916
Known GenesDDX51, EP400, EP400NL, GALNT9, NOC4L
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)nsv428285
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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