A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266935



Internal ID17488003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39521541..39522859hg38UCSC Ensembl
Innerchr22:39917546..39918864hg19UCSC Ensembl
Innerchr22:38247492..38248810hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381319
hg191319
hg181319
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964633
Supporting Variants
SamplesHGDP00998
Known GenesATF4
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2266935
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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