A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4563759



Internal ID20293651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136744722..136744723hg38UCSC Ensembl
chr6:137065860..137065861hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg381826
hg191826
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16071221
Samples
Known GenesMAP3K5
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)nsv4563759
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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