A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16026084



Internal ID20098040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:61800225..61800226hg38UCSC Ensembl
chr1:62265897..62265898hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570887
Supporting Variants
Samples
Known GenesINADL
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)nssv16026084
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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