A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1908588



Internal ID17447223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:124382025..124384409hg38UCSC Ensembl
Innerchr11:124251921..124254305hg19UCSC Ensembl
Innerchr11:123757131..123759515hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg382385
hg192385
hg182385
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv975238
Supporting Variants
SamplesHGDP00778
Known GenesOR8B2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1908588
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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