A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4126991



Internal ID20009836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37322565..37717651hg38UCSC Ensembl
chr5:37322667..37717753hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38395087
hg19395087
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1989n166
Supporting Variantsnssv15974950
Samples
Known GenesNUP155, 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)nsv4126991
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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