A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15897150



Internal ID19969090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184811355..184820268hg38UCSC Ensembl
chr4:185732509..185741422hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg388914
hg198914
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4131214
Supporting Variants
Samples
Known GenesACSL1
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)nssv15897150
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001798


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