A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452559



Internal ID18274981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:20585165..22308242hg38UCSC Ensembl
Innerchr15:20790488..22672639hg19UCSC Ensembl
Innerchr15:19050502..20224003hg18UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg381723078
hg191882152
hg181173502
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428296
Supporting Variants
SamplesNA19147
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)nssv452559
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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