A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428193



Internal ID18624643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:96943..390422hg38UCSC Ensembl
Innerchr8:46943..340422hg19UCSC Ensembl
Innerchr8:36943..330422hg18UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38293480
hg19293480
hg18293480
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv451358, nssv451360, nssv451357, nssv451362, nssv451363, nssv451367, nssv451359
SamplesHGDP00463, NA18498, NA19225, NA19108, HGDP00984, NA19096, HGDP00449
Known GenesFAM87A, OR4F21, RPL23AP53, ZNF596
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)nsv428193
Frequency
Sample Size62
Observed Gain3
Observed Loss4
Observed Complex0
Frequencyn/a


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