A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428335



Internal ID11591767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236734659..236913672hg38UCSC Ensembl
Innerchr1:236897959..237076972hg19UCSC Ensembl
Innerchr1:234964582..235143595hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38179014
hg19179014
hg18179014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453175
SamplesNA19113
Known GenesACTN2, MTR
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)nsv428335
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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