A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451186



Internal ID18619972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:144274482..145415526hg19UCSC Ensembl
Innerchr1:142985839..144126883hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg191141045
hg181141045
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428212
Supporting Variants
SamplesHGDP00462
Known GenesHFE2, LINC00623, LOC100288142, LOC101929780, LOC653513, LOC728875, NBPF10, NBPF12, NBPF8, NBPF9, NOTCH2NL, PDE4DIP, PFN1P2, PPIAL4A, PPIAL4B, PPIAL4C, SEC22B
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)nssv451186
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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