A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452046



Internal ID18273308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:4199986..4488958hg38UCSC Ensembl
Innerchr11:4221216..4510188hg19UCSC Ensembl
Innerchr11:4177792..4466764hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38288973
hg19288973
hg18288973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428248
Supporting Variants
SamplesHGDP00463
Known GenesLOC100506082, OR52B4, OR52K1, OR52K2, TRIM21
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)nssv452046
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