A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4069406



Internal ID20314477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:198540835..198546455hg38UCSC Ensembl
chr1:198509965..198515585hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg385621
hg195621
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15847730
Samples
Known GenesATP6V1G3
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)nsv4069406
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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