A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4120041



Internal ID20004960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37163589..37718935hg38UCSC Ensembl
chr5:37163691..37719037hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38555347
hg19555347
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1989n166
Supporting Variantsnssv15974942
Samples
Known GenesC5orf42, NUP155, WDR70
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)nsv4120041
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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