A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452535



Internal ID18273685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19954442..20470562hg38UCSC Ensembl
Innerchr15:20159695..20675815hg19UCSC Ensembl
Innerchr15:18419709..18935829hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38516121
hg19516121
hg18516121
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP00474
Known GenesCHEK2P2, 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)nssv452535
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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