A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2271052



Internal ID17852262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44567383..44571917hg38UCSC Ensembl
Innerchr22:44963263..44967797hg19UCSC Ensembl
Innerchr22:43341927..43346461hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg384535
hg194535
hg184535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979685
Supporting Variants
SamplesHGDP01029
Known GenesLINC00207
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)nssv2271052
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