A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428420



Internal ID18278184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130047830..130257699hg38UCSC Ensembl
Innerchr3:129766673..129976542hg19UCSC Ensembl
Innerchr3:131249363..131459232hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38209870
hg19209870
hg18209870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454278
SamplesHGDP00449
Known GenesALG1L2, COL6A4P2, FAM86HP
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)nsv428420
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