A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953789



Internal ID20025729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23439649..24002966hg38UCSC Ensembl
chr13:24013788..24577105hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38563318
hg19563318
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4224471
Supporting Variants
Samples
Known GenesANKRD20A19P, C1QTNF9B, C1QTNF9B-AS1, LINC00327, MIPEP, SPATA13, TNFRSF19
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)nssv15953789
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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