A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4340521



Internal ID19840632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:94393468..94637731hg38UCSC Ensembl
chr14:94859805..95104068hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg38244264
hg19244264
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788196
Samples
Known GenesSERPINA11, SERPINA12, SERPINA3, SERPINA4, SERPINA5, SERPINA9
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4340521
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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