A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17717524



Internal ID141190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:39553366..39600248hg38UCSC Ensembl
chr18:37133330..37180212hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg3846883
hg1946883
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526175
Supporting Variants
Samples
Known GenesLINC00669
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17717524
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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