A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956940



Internal ID19682194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74879023..74892313hg38UCSC Ensembl
chr14:75345726..75359016hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3813291
hg1913291
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4218101
Supporting Variants
Samples
Known GenesDLST
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)nssv15956940
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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