A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15842971



Internal ID19915057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12130185..12135185hg38UCSC Ensembl
chr19:12241000..12246000hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4259609
Supporting Variants
Samples
Known GenesZNF20, ZNF625-ZNF20
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)nssv15842971
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000053


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