A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692878



Internal ID116544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81196882..81196933hg38UCSC Ensembl
chr13:81771017..81771068hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5415873
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17692878
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002029


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