A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900918



Internal ID19972858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38532019..38538498hg38UCSC Ensembl
chr5:38532121..38538600hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg386480
hg196480
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4130427
Supporting Variants
Samples
Known GenesLIFR
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)nssv15900918
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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