A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4111538



Internal ID19998922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46260885..46261119hg38UCSC Ensembl
chr4:46262902..46263136hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15890219
Samples
Known GenesGABRA2
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)nsv4111538
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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