A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173717



Internal ID20390323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:53215654..53357352hg38UCSC Ensembl
chr10:54975414..55117112hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38141699
hg19141699
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv245n166
Supporting Variantsnssv15795161
Samples
Known Genes
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)nsv4173717
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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