A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1892117



Internal ID17415701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60756062..60764553hg38UCSC Ensembl
Innerchr11:60523535..60532026hg19UCSC Ensembl
Innerchr11:60280111..60288602hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg388492
hg198492
hg188492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975191
Supporting Variants
SamplesHGDP00542
Known GenesMS4A15
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)nssv1892117
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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