A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822350



Internal ID19894436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73344612..73344792hg38UCSC Ensembl
chr14:73811320..73811500hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4225399
Supporting Variants
Samples
Known GenesNUMB
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 ID32461652
Accession Number(s)nssv15822350
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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