A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15884825



Internal ID19610079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115635740..115637772hg38UCSC Ensembl
chr3:115354587..115356619hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg382033
hg192033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4081214
Supporting Variants
Samples
Known GenesGAP43
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)nssv15884825
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000599


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