A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267331



Internal ID17406112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:40824919..40826759hg38UCSC Ensembl
Innerchr22:41220923..41222763hg19UCSC Ensembl
Innerchr22:39550869..39552709hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381841
hg191841
hg181841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964634
Supporting Variants
SamplesHGDP00521
Known GenesST13
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)nssv2267331
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