A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4176458



Internal ID20392264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:20167717..20170332hg38UCSC Ensembl
chr10:20456646..20459261hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg382616
hg192616
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15792862
Samples
Known GenesPLXDC2
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)nsv4176458
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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