A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1892022



Internal ID17780484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:60207720..60210288hg38UCSC Ensembl
Innerchr11:59975193..59977761hg19UCSC Ensembl
Innerchr11:59731769..59734337hg18UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg382569
hg192569
hg182569
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983028
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)nssv1892022
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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