A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4164169



Internal ID20383364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112786271..112791771hg38UCSC Ensembl
chr8:113798500..113804000hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2633n166
Supporting Variantsnssv15932154
Samples
Known GenesCSMD3
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)nsv4164169
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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