A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4116971



Internal ID20349477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43234324..43236643hg38UCSC Ensembl
chr5:43234426..43236745hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382320
hg192320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15901457
Samples
Known GenesNIM1
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)nsv4116971
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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