A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790750



Internal ID19516129
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24443867..24526259hg38UCSC Ensembl
chr6:24444095..24526487hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3882393
hg1982393
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4563462
Supporting Variants
Samples
Known GenesALDH5A1, GPLD1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15790750
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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