A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4123420



Internal ID20007285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80631411..80670883hg38UCSC Ensembl
chr5:79927230..79966702hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3839473
hg1939473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977402
Samples
Known GenesDHFR, MSH3, MTRNR2L2
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)nsv4123420
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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