A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2118873



Internal ID17820382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:22415653..22417832hg38UCSC Ensembl
Innerchr18:19995616..19997795hg19UCSC Ensembl
Innerchr18:18249614..18251793hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382180
hg192180
hg182180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978620
Supporting Variants
SamplesHGDP00927
Known GenesCTAGE1
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)nssv2118873
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