A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957557



Internal ID19682811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:74894040..74894197hg38UCSC Ensembl
chr15:75186381..75186538hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4235666
Supporting Variants
Samples
Known GenesMPI
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)nssv15957557
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000141


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