A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4059046



Internal ID19835636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24035691..24036400hg38UCSC Ensembl
chr2:24258561..24259270hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38710
hg19710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1243n166
Supporting Variantsnssv15868140
Samples
Known GenesC2orf44
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)nsv4059046
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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