A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2122716



Internal ID17505678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46215961..46216461hg38UCSC Ensembl
Innerchr18:43795927..43796427hg19UCSC Ensembl
Innerchr18:42049925..42050425hg18UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960275
Supporting Variants
SamplesHGDP01029
Known GenesC18orf25
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)nssv2122716
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