A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970764



Internal ID20042704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194300920..194316286hg38UCSC Ensembl
chr3:194018709..194034075hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3815367
hg1915367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093577
Supporting Variants
Samples
Known GenesLINC00887
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 ID32461652
Accession Number(s)nssv15970764
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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