A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1905092



Internal ID17499746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:110294066..110297011hg38UCSC Ensembl
Innerchr11:110164791..110167736hg19UCSC Ensembl
Innerchr11:109670001..109672946hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg382946
hg192946
hg182946
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975226
Supporting Variants
SamplesHGDP01029
Known GenesRDX
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)nssv1905092
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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