A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914226



Internal ID19986166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116307451..116314499hg38UCSC Ensembl
chr6:116628614..116635662hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg387049
hg197049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4144305
Supporting Variants
Samples
Known GenesDSE
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)nssv15914226
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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