A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4117372



Internal ID20003054
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 StatusM
Merged Variants
Supporting Variantsnssv15901901
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)nsv4117372
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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