A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1901252



Internal ID17760715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:93051586..93052736hg38UCSC Ensembl
Innerchr11:92784752..92785902hg19UCSC Ensembl
Innerchr11:92424400..92425550hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg381151
hg191151
hg181151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983053
Supporting Variants
SamplesHGDP00542
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)nssv1901252
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer