A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16040135



Internal ID20112091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:122762575..122762576hg38UCSC Ensembl
chr2:123520151..123520152hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4555903
Supporting Variants
Samples
Known Genes
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)nssv16040135
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.058448


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