A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16028505



Internal ID20100461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168195329..168195330hg38UCSC Ensembl
chr1:168164567..168164568hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4459539
Supporting Variants
Samples
Known GenesTIPRL
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)nssv16028505
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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