A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428364



Internal ID18278128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42716055..42931292hg38UCSC Ensembl
Innerchr19:43220207..43435444hg19UCSC Ensembl
Innerchr19:47912047..48127284hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38215238
hg19215238
hg18215238
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453710, nssv453711
SamplesNA18498, HGDP00984
Known GenesLOC100289650, PSG1, PSG10P, PSG3, PSG6, PSG7, PSG8
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)nsv428364
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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