A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4100416



Internal ID19990676
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 StatusM
Merged Variants
Supporting Variantsnssv15969831
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)nsv4100416
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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