A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15958919



Internal ID19684173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39001259..39355536hg38UCSC Ensembl
chr17:37157512..37511789hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38354278
hg19354278
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4262107
Supporting Variants
Samples
Known GenesARL5C, CACNB1, FBXL20, LOC100131347, LRRC37A11P, PLXDC1, RPL19, STAC2
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)nssv15958919
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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