A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267830



Internal ID17820034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39963618..39965857hg38UCSC Ensembl
Innerchr22:40359622..40361861hg19UCSC Ensembl
Innerchr22:38689568..38691807hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg382240
hg192240
hg182240
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979678
Supporting Variants
SamplesHGDP00927
Known GenesGRAP2
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)nssv2267830
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