A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788341



Internal ID19860379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2357745..2378632hg38UCSC Ensembl
chr16:2407746..2428633hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3820888
hg1920888
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340006
Supporting Variants
Samples
Known GenesABCA17P
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 ID32461652
Accession Number(s)nssv15788341
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00023


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