A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4573471



Internal ID20303346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132725051..132725052hg38UCSC Ensembl
chr5:132060743..132060744hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16064774
Samples
Known GenesKIF3A
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)nsv4573471
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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