A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428258



Internal ID18278022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58932619..59111366hg38UCSC Ensembl
Innerchr11:58700092..58878839hg19UCSC Ensembl
Innerchr11:58456668..58635415hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg38178748
hg19178748
hg18178748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452085
SamplesHGDP00478
Known GenesFAM111B, GLYATL1, LOC283194
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)nsv428258
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer