A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452545



Internal ID18273430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20124963..20548787hg38UCSC Ensembl
Innerchr15:20330216..20754094hg19UCSC Ensembl
Innerchr15:18590230..19014108hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38423825
hg19423879
hg18423879
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP00467
Known GenesCHEK2P2, GOLGA6L6, HERC2P3
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)nssv452545
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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