A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2269799



Internal ID17783216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:46139230..46140747hg38UCSC Ensembl
Innerchr22:46535104..46536621hg19UCSC Ensembl
Innerchr22:44913768..44915285hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381518
hg191518
hg181518
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964641
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)nssv2269799
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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