A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1883875



Internal ID17747140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:45513408..45515232hg38UCSC Ensembl
Innerchr11:45534958..45536782hg19UCSC Ensembl
Innerchr11:45491534..45493358hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381825
hg191825
hg181825
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983008
Supporting Variants
SamplesHGDP00521
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)nssv1883875
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