A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16038093



Internal ID19763347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113075821..113075822hg38UCSC Ensembl
chr2:113833398..113833399hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38298
hg19298
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4569534
Supporting Variants
Samples
Known GenesIL1F10
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)nssv16038093
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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