A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16035536



Internal ID20107492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42447083..42447084hg38UCSC Ensembl
chr2:42674223..42674224hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4536299
Supporting Variants
Samples
Known GenesKCNG3
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)nssv16035536
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.12799


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