A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560197



Internal ID20290080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:85276866..85276867hg38UCSC Ensembl
chr8:86189095..86189096hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg381233
hg191233
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16079496
Samples
Known GenesCA13
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)nsv4560197
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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