A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17716281



Internal ID139947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12176000..12208000hg38UCSC Ensembl
chr18:12175999..12207999hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3832001
hg1932001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518353
Supporting Variants
Samples
Known GenesC18orf61
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17716281
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