A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1890465



Internal ID17780422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57017909..57023612hg38UCSC Ensembl
Innerchr11:56785384..56791087hg19UCSC Ensembl
Innerchr11:56541960..56547663hg18UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg385704
hg195704
hg185704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975187
Supporting Variants
SamplesHGDP00665
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)nssv1890465
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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