A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1891333



Internal ID17466820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:58954701..58956027hg38UCSC Ensembl
Innerchr11:58722174..58723500hg19UCSC Ensembl
Innerchr11:58478750..58480076hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg381327
hg191327
hg181327
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975934
Supporting Variants
SamplesHGDP00927
Known GenesGLYATL1, LOC283194
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)nssv1891333
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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