A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4576458



Internal ID19959647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:41232151..41232152hg38UCSC Ensembl
chr15:41524349..41524350hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381223
hg191223
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16011337
Samples
Known GenesCHP1
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)nsv4576458
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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