A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1891963



Internal ID17466846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:62559450..62560565hg38UCSC Ensembl
Innerchr11:62326922..62328037hg19UCSC Ensembl
Innerchr11:62083498..62084613hg18UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg381116
hg191116
hg181116
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975193
Supporting Variants
SamplesHGDP00927
Known GenesEEF1G, MIR3654
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)nssv1891963
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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