A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15913954



Internal ID19639208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110244499..110256795hg38UCSC Ensembl
chr6:110565702..110577998hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3812297
hg1912297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4134613
Supporting Variants
Samples
Known GenesMETTL24
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)nssv15913954
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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