A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428433



Internal ID18278197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197508059..197770997hg38UCSC Ensembl
Innerchr3:197234930..197497868hg19UCSC Ensembl
Innerchr3:198719327..198982265hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38262939
hg19262939
hg18262939
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454346, nssv454347, nssv454344, nssv454351, nssv454345, nssv454349, nssv454348, nssv454350
SamplesHGDP00463, NA19257, HGDP00462, NA19096, NA18916, NA19113, HGDP00473, HGDP00449
Known GenesBDH1, FYTTD1, KIAA0226, LOC220729, MIR922
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)nsv428433
Frequency
Sample Size62
Observed Gain1
Observed Loss7
Observed Complex0
Frequencyn/a


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