A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16080794



Internal ID19806060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53755701..53755702hg38UCSC Ensembl
chr8:54668261..54668262hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4496453
Supporting Variants
Samples
Known GenesATP6V1H
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)nssv16080794
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000372


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