A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16026957



Internal ID19752211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117003626..117003627hg38UCSC Ensembl
chr1:117546248..117546249hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg381054
hg191054
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4564752
Supporting Variants
Samples
Known GenesCD101
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)nssv16026957
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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