A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15900923



Internal ID19626177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:38605706..38613393hg38UCSC Ensembl
chr5:38605808..38613495hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg387688
hg197688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4119093
Supporting Variants
Samples
Known GenesLIFR-AS1
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)nssv15900923
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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