A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15861312



Internal ID19933252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36527147..36531995hg38UCSC Ensembl
chr21:37899445..37904293hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg384849
hg194849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4537931
Supporting Variants
Samples
Known GenesCLDN14
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)nssv15861312
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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