A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267565



Internal ID17836061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38983765..38990616hg38UCSC Ensembl
Innerchr22:39379770..39386621hg19UCSC Ensembl
Innerchr22:37709716..37716567hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg386852
hg196852
hg186852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979676
Supporting Variants
SamplesHGDP00998
Known GenesAPOBEC3A_B, APOBEC3B
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)nssv2267565
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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