A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1908949



Internal ID17827629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:129694797..129696297hg38UCSC Ensembl
Innerchr11:129564692..129566192hg19UCSC Ensembl
Innerchr11:129069902..129071402hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg381501
hg191501
hg181501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983076
Supporting Variants
SamplesHGDP00998
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)nssv1908949
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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