A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15894781



Internal ID19966721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:103688843..103711843hg38UCSC Ensembl
chr4:104610000..104633000hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3823001
hg1923001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4100518
Supporting Variants
Samples
Known GenesTACR3
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)nssv15894781
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000619


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