A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4543963



Internal ID19927152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:138178784..138178785hg38UCSC Ensembl
chr5:137514473..137514474hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16063955
Samples
Known GenesKIF20A
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)nsv4543963
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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