A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428249



Internal ID18278013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:8047047..8194822hg38UCSC Ensembl
Innerchr11:8068594..8216369hg19UCSC Ensembl
Innerchr11:8025170..8172945hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38147776
hg19147776
hg18147776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452056, nssv452054, nssv452050, nssv452049, nssv452055, nssv452052, nssv452051
SamplesHGDP00476, NA19189, HGDP00460, HGDP00450, HGDP00467, NA19181, HGDP00474
Known GenesRIC3, TUB
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)nsv428249
Frequency
Sample Size62
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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