A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15896944



Internal ID19968884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:168423421..168426561hg38UCSC Ensembl
chr4:169344572..169347712hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg383141
hg193141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093601
Supporting Variants
Samples
Known GenesDDX60L
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)nssv15896944
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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