A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4077618



Internal ID20320509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168131329..168136186hg38UCSC Ensembl
chr2:168987839..168992696hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384858
hg194858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15871527
Samples
Known GenesSTK39
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)nsv4077618
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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