A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15893960



Internal ID19965900
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:92471927..92472233hg38UCSC Ensembl
chr4:93393078..93393384hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4098565
Supporting Variants
Samples
Known GenesGRID2
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)nssv15893960
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.374942


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