A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914493



Internal ID19639747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149668117..149674273hg38UCSC Ensembl
chr6:149989253..149995409hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386157
hg196157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4143975
Supporting Variants
Samples
Known GenesLATS1
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)nssv15914493
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.010161


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