A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2266644



Internal ID17834025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32344331..32355919hg38UCSC Ensembl
Innerchr22:32740318..32751906hg19UCSC Ensembl
Innerchr22:31070318..31081906hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3811589
hg1911589
hg1811589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv964624
Supporting Variants
SamplesHGDP00998
Known GenesRFPL3
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)nssv2266644
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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