A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15901901



Internal ID19627155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:81238988..81250571hg38UCSC Ensembl
chr5:80534807..80546390hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3811584
hg1911584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117372
Supporting Variants
Samples
Known GenesCKMT2, CKMT2-AS1, RNU5D-1, RNU5E-1
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)nssv15901901
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000507


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