A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717281



Internal ID140947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:34982051..34998607hg38UCSC Ensembl
chr18:32562015..32578571hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3816557
hg1916557
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5522231
Supporting Variants
Samples
Known GenesMAPRE2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717281
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