A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15914140



Internal ID19986080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:98313216..98336675hg38UCSC Ensembl
chr6:98761092..98784551hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg3823460
hg1923460
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4139221
Supporting Variants
Samples
Known Genes
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)nssv15914140
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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