A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185613



Internal ID20398788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:103522379..103527949hg38UCSC Ensembl
chr10:105282136..105287706hg19UCSC Ensembl
Cytoband10q24.33
Allele length
AssemblyAllele length
hg385571
hg195571
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15797589
Samples
Known GenesNEURL1
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)nsv4185613
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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