A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15816880



Internal ID19888966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:51972192..52006572hg38UCSC Ensembl
chr13:52546328..52580708hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3834381
hg1934381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4220407
Supporting Variants
Samples
Known GenesATP7B
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)nssv15816880
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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