A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2229846



Internal ID17798893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:18484079..18486527hg38UCSC Ensembl
Innerchr20:18464723..18467171hg19UCSC Ensembl
Innerchr20:18412723..18415171hg18UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg382449
hg192449
hg182449
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv965861
Supporting Variants
SamplesHGDP00778
Known GenesPOLR3F
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)nssv2229846
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