A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090154



Internal ID19815424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116409466..116410352hg38UCSC Ensembl
chr1:116952088..116952974hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38887
hg19887
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4317291
Supporting Variants
Samples
Known GenesATP1A1OS
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)nssv16090154
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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