A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv979632



Internal ID18268147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18908034..18929580hg38UCSC Ensembl
Innerchr22:18895547..18917093hg19UCSC Ensembl
Innerchr22:17275547..17297093hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3821547
hg1921547
hg1821547
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2254151, nssv2254158, nssv2254152, nssv2254153, nssv2254149, nssv2254157, nssv2254155, nssv2254150, nssv2254154, nssv2254156
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesDGCR6, PRODH
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv979632
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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