A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1907050



Internal ID17812280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124014679..124016709hg38UCSC Ensembl
Innerchr11:123885386..123887416hg19UCSC Ensembl
Innerchr11:123390596..123392626hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg382031
hg192031
hg182031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983070
Supporting Variants
SamplesHGDP00927
Known GenesOR10G4
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)nssv1907050
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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