A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4223994



Internal ID20079704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30912229..30912750hg38UCSC Ensembl
chr13:31486366..31486887hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38522
hg19522
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15813791
Samples
Known GenesMEDAG, TEX26-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 ID12345678
Accession Number(s)nsv4223994
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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