A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826016



Internal ID19898102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55449162..55757545hg38UCSC Ensembl
chr15:55741360..56049743hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38308384
hg19308384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4246550
Supporting Variants
Samples
Known GenesDYX1C1, DYX1C1-CCPG1, PRTG, PYGO1
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 ID32461652
Accession Number(s)nssv15826016
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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