A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268247



Internal ID17457793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38960507..38965115hg38UCSC Ensembl
Innerchr22:39356512..39361120hg19UCSC Ensembl
Innerchr22:37686458..37691066hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg384609
hg194609
hg184609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979675
Supporting Variants
SamplesHGDP00778
Known GenesAPOBEC3A, APOBEC3A_B
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)nssv2268247
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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