A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694356



Internal ID118022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90570761..90570761hg38UCSC Ensembl
chr13:91223015..91223015hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5552791
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694356
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.133662


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