A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428246



Internal ID18278010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:155588406..155816040hg38UCSC Ensembl
Innerchr1:155558197..155785831hg19UCSC Ensembl
Innerchr1:153824821..154052455hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38227635
hg19227635
hg18227635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451920
SamplesHGDP00474
Known GenesDAP3, GON4L, MSTO1, MSTO2P, YY1AP1
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)nsv428246
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