A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2268648



Internal ID17491705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:39043007..39079098hg38UCSC Ensembl
Innerchr22:39439012..39475103hg19UCSC Ensembl
Innerchr22:37768958..37805049hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3836092
hg1936092
hg1836092
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964631
Supporting Variants
SamplesHGDP00998
Known GenesAPOBEC3F, APOBEC3G
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)nssv2268648
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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