A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970005



Internal ID19695259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214674080..214727441hg38UCSC Ensembl
chr2:215538804..215592165hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3853362
hg1953362
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4088674
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 ID12345678
Accession Number(s)nssv15970005
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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