A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16032365



Internal ID19757619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:38751049..38751050hg38UCSC Ensembl
chr20:37379692..37379693hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381189
hg191189
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4577375
Supporting Variants
Samples
Known GenesACTR5
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)nssv16032365
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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