A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15842957



Internal ID19568357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11102224..11135324hg38UCSC Ensembl
chr19:11212900..11246000hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3833101
hg1933101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4267750
Supporting Variants
Samples
Known GenesLDLR, MIR6886
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)nssv15842957
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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