A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15818105



Internal ID19890191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95478312..95481951hg38UCSC Ensembl
chr13:96130566..96134205hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg383640
hg193640
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4230723
Supporting Variants
Samples
Known GenesCLDN10, CLDN10-AS1
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)nssv15818105
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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