A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1906685



Internal ID17811534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:121235372..121244584hg38UCSC Ensembl
Innerchr11:121106081..121115293hg19UCSC Ensembl
Innerchr11:120611291..120620503hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg389213
hg199213
hg189213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975986
Supporting Variants
SamplesHGDP00927
Known Genes
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)nssv1906685
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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