A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16027278



Internal ID20099234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1546903..1546904hg38UCSC Ensembl
chr1:1482283..1482284hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4537906
Supporting Variants
Samples
Known GenesSSU72
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)nssv16027278
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.115505


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