A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15888505



Internal ID19960445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183681368..183681925hg38UCSC Ensembl
chr3:183399156..183399713hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38558
hg19558
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4109245
Supporting Variants
Samples
Known GenesKLHL24
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)nssv15888505
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000657


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