A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789379



Internal ID19514744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37595698..37619423hg38UCSC Ensembl
chr22:37991705..38015430hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3823726
hg1923726
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342010
Supporting Variants
Samples
Known GenesGGA1
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)nssv15789379
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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