A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452536



Internal ID18274126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:19954442..21014516hg38UCSC Ensembl
Innerchr15:20159695..21219845hg19UCSC Ensembl
Innerchr15:18419709..19484504hg18UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg381060075
hg191060151
hg181064796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP01088
Known GenesCHEK2P2, CT60, CXADRP2, GOLGA6L6, GOLGA8CP, HERC2P3, LOC646214, NBEAP1, NF1P2, 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)nssv452536
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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