A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452547



Internal ID18274389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20281958..22181151hg38UCSC Ensembl
Innerchr15:20487211..22469102hg19UCSC Ensembl
Innerchr15:18747225..19970466hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381899194
hg191981892
hg181223242
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP01094
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, LOC727924, NBEAP1, NF1P2, OR4M2, OR4N3P, OR4N4, POTEB, POTEB2
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)nssv452547
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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