A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15896238



Internal ID19968178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:153710348..153722272hg38UCSC Ensembl
chr4:154631500..154643424hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3811925
hg1911925
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4096328
Supporting Variants
Samples
Known GenesRNF175
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)nssv15896238
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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