A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2267108



Internal ID17818418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38357808..38381261hg38UCSC Ensembl
Innerchr22:38753813..38777266hg19UCSC Ensembl
Innerchr22:37083759..37107212hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3823454
hg1923454
hg1823454
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979674
Supporting Variants
SamplesHGDP00927
Known GenesLOC400927
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)nssv2267108
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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