A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15826038



Internal ID19551438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:57605522..57607374hg38UCSC Ensembl
chr15:57897720..57899572hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg381853
hg191853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4238905
Supporting Variants
Samples
Known GenesGCOM1, MYZAP
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)nssv15826038
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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