A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15924896



Internal ID19996836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:3005139..4191353hg38UCSC Ensembl
chr8:2862661..4048875hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg381186215
hg191186215
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4160724
Supporting Variants
Samples
Known GenesCSMD1
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)nssv15924896
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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