A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694344



Internal ID118010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90390315..90408894hg38UCSC Ensembl
chr13:91042569..91061148hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3818580
hg1918580
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5498933
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694344
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