A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15992012



Internal ID20063961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:23004118..23004119hg38UCSC Ensembl
chr10:23293047..23293048hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4538699
Supporting Variants
Samples
Known GenesARMC3
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)nssv15992012
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.013754


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