A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4218195



Internal ID20422289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:105519072..105804404hg38UCSC Ensembl
chr13:106171421..106456753hg19UCSC Ensembl
Cytoband13q33.2
Allele length
AssemblyAllele length
hg38285333
hg19285333
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15819997
Samples
Known GenesLINC00343
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)nsv4218195
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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