A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4121385



Internal ID20005906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37146354..37516838hg38UCSC Ensembl
chr5:37146456..37516940hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38370485
hg19370485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974941
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)nsv4121385
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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