A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15890826



Internal ID19616080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46963320..46964058hg38UCSC Ensembl
chr4:46965337..46966075hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4109634
Supporting Variants
Samples
Known GenesGABRA4
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)nssv15890826
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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