A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4119380



Internal ID20004502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149167241..149169837hg38UCSC Ensembl
chr5:148546804..148549400hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382597
hg192597
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15904271
Samples
Known GenesABLIM3
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 ID12345678
Accession Number(s)nsv4119380
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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