A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15827436



Internal ID19899522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83763649..83771964hg38UCSC Ensembl
chr15:84432401..84440716hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg388316
hg198316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4241756
Supporting Variants
Samples
Known GenesADAMTSL3
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)nssv15827436
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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