A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15869179



Internal ID19941119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110094922..110231423hg38UCSC Ensembl
chr2:110852499..110989000hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38136502
hg19136502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4518500
Supporting Variants
Samples
Known GenesLINC00116, MALL, NPHP1
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)nssv15869179
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001798


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