A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4149426



Internal ID20372656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:156943306..156948991hg38UCSC Ensembl
chr6:157264440..157270125hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg385686
hg195686
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15916283
Samples
Known GenesARID1B
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)nsv4149426
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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