A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15902015



Internal ID19627269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:108774445..108775157hg38UCSC Ensembl
chr5:108110146..108110858hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38713
hg19713
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4115144
Supporting Variants
Samples
Known GenesFER
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)nssv15902015
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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