A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4073099



Internal ID20317168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:85548853..85612259hg38UCSC Ensembl
chr3:85598003..85661409hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3863407
hg1963407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883044
Samples
Known GenesCADM2
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)nsv4073099
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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