A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15855184



Internal ID19927124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100154956..100155497hg38UCSC Ensembl
chr1:100620512..100621053hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4071222
Supporting Variants
Samples
Known GenesLRRC39
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)nssv15855184
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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