A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15892994



Internal ID19964934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82428447..82429247hg38UCSC Ensembl
chr4:83349600..83350400hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4100018
Supporting Variants
Samples
Known GenesHNRNPDL
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)nssv15892994
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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