A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452548



Internal ID18274613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20281958..22308242hg38UCSC Ensembl
Innerchr15:20487211..22596193hg19UCSC Ensembl
Innerchr15:18747225..20097557hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg382026285
hg192108983
hg181350333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesNA18916
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, 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)nssv452548
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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