A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15897825



Internal ID19623079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:183641849..183642443hg38UCSC Ensembl
chr4:184563002..184563596hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38595
hg19595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4123905
Supporting Variants
Samples
Known GenesRWDD4
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 ID12345678
Accession Number(s)nssv15897825
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.274269


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