A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1878251



Internal ID17829587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17192405..17194353hg38UCSC Ensembl
Innerchr11:17213952..17215900hg19UCSC Ensembl
Innerchr11:17170528..17172476hg18UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg381949
hg191949
hg181949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv982988
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)nssv1878251
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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