A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428322



Internal ID18278086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21489241..22017793hg38UCSC Ensembl
Innerchr16:21500562..22029114hg19UCSC Ensembl
Innerchr16:21408063..21936615hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38528553
hg19528553
hg18528553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453010, nssv453007, nssv453009, nssv453006
SamplesHGDP01087, HGDP00462, HGDP01088, NA19113
Known GenesC16orf52, IGSF6, LOC100190986, LOC100271836, METTL9, OTOA, PDZD9, RRN3P1, SLC7A5P2, UQCRC2
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)nsv428322
Frequency
Sample Size62
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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