A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15969831



Internal ID19695085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:169786814..169800462hg38UCSC Ensembl
chr3:169504602..169518250hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3813649
hg1913649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4100416
Supporting Variants
Samples
Known GenesLRRC34, MYNN
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)nssv15969831
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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