A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15899236



Internal ID19624490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:8259886..8736888hg38UCSC Ensembl
chr5:8259999..8737000hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38477003
hg19477002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4523697
Supporting Variants
Samples
Known GenesLOC729506, MIR4458, MIR4458HG
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)nssv15899236
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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