A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1890408



Internal ID17392010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:59778310..59781974hg38UCSC Ensembl
Innerchr11:59545783..59549447hg19UCSC Ensembl
Innerchr11:59302359..59306023hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg383665
hg193665
hg183665
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972034
Supporting Variants
SamplesHGDP00456
Known GenesSTX3
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)nssv1890408
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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