A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15822396



Internal ID19547796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:74052945..74075547hg38UCSC Ensembl
chr14:74519648..74542250hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3822603
hg1922603
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4213664
Supporting Variants
Samples
Known GenesALDH6A1, CCDC176
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)nssv15822396
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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