A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452554



Internal ID18272969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20585165..22308242hg38UCSC Ensembl
Innerchr15:20790488..22596193hg19UCSC Ensembl
Innerchr15:19050502..20097557hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381723078
hg191805706
hg181047056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesHGDP00449
Known GenesCT60, CXADRP2, 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)nssv452554
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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