A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105077



Internal ID19994143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:156832389..156840671hg38UCSC Ensembl
chr3:156550178..156558460hg19UCSC Ensembl
Cytoband3q25.31
Allele length
AssemblyAllele length
hg388283
hg198283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1711n166
Supporting Variantsnssv15884393
Samples
Known GenesLEKR1
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)nsv4105077
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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