A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15894304



Internal ID19619558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:110063363..110063563hg38UCSC Ensembl
chr4:110984519..110984719hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38201
hg19201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4109951
Supporting Variants
Samples
Known GenesELOVL6
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)nssv15894304
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002905


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