A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17715363



Internal ID139029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10167992..10218703hg38UCSC Ensembl
chr18:10167989..10218700hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3850712
hg1950712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5517981
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17715363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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