A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971590



Internal ID19696844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:40492659..40635807hg38UCSC Ensembl
chr3:40534150..40677298hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg38143149
hg19143149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520519
Supporting Variants
Samples
Known GenesZNF620, ZNF621
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15971590
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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