A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15873574



Internal ID19945514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214785028..214786285hg38UCSC Ensembl
chr2:215649752..215651009hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4074960
Supporting Variants
Samples
Known GenesBARD1
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)nssv15873574
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.005808


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