A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15905244



Internal ID19630498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118948750..119020725hg38UCSC Ensembl
chr5:118284445..118356420hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3871976
hg1971976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4126066
Supporting Variants
Samples
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
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)nssv15905244
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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