A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2265652



Internal ID17782190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37213792..37215680hg38UCSC Ensembl
Innerchr22:37609832..37611720hg19UCSC Ensembl
Innerchr22:35939778..35941666hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381889
hg191889
hg181889
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966108
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv2265652
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