A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4577320



Internal ID20307195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:71768276..71768277hg38UCSC Ensembl
chr15:72060615..72060616hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg38857
hg19857
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16011502
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)nsv4577320
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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