A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452546



Internal ID18273867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20124963..22457073hg38UCSC Ensembl
Innerchr15:20330216..22734426hg19UCSC Ensembl
Innerchr15:18590230..20285790hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382332111
hg192404211
hg181695561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP00984
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, GOLGA8DP, HERC2P3, LOC646214, LOC727924, MIR4509-1, MIR4509-2, MIR4509-3, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2, REREP3
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)nssv452546
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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