A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1905532



Internal ID17483907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:112234304..112236104hg38UCSC Ensembl
Innerchr11:112105027..112106827hg19UCSC Ensembl
Innerchr11:111610237..111612037hg18UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg381801
hg191801
hg181801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv972073
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)nssv1905532
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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