A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15841297



Internal ID19566697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1764731..2071822hg38UCSC Ensembl
chr19:1764730..2071821hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38307092
hg19307092
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267110
Supporting Variants
Samples
Known GenesABHD17A, ADAT3, ATP8B3, BTBD2, CSNK1G2, CSNK1G2-AS1, KLF16, LOC100288123, MIR1909, MKNK2, MOB3A, ONECUT3, REXO1, SCAMP4
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)nssv15841297
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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