A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428247



Internal ID18278011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:3595654..3780199hg38UCSC Ensembl
Innerchr11:3616884..3801429hg19UCSC Ensembl
Innerchr11:3573460..3758005hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38184546
hg19184546
hg18184546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452023, nssv452025, nssv452024, nssv452027, nssv452026
SamplesHGDP00463, NA19189, NA19181, NA19113, NA19096
Known GenesART1, ART5, CHRNA10, NUP98, TRPC2
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)nsv428247
Frequency
Sample Size62
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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