A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4106143



Internal ID20341639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:165292654..165293188hg38UCSC Ensembl
chr4:166213806..166214340hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15897379
Samples
Known GenesKLHL2
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)nsv4106143
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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