A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16080030



Internal ID20151986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42027883..42027884hg38UCSC Ensembl
chr8:41885401..41885402hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4490527
Supporting Variants
Samples
Known GenesKAT6A
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)nssv16080030
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000277


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