A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956821



Internal ID20028761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71695259..71734282hg38UCSC Ensembl
chr15:71987598..72026621hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3839024
hg1939024
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4240986
Supporting Variants
Samples
Known GenesTHSD4
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)nssv15956821
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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