A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15979892



Internal ID19705146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143080078..143080174hg38UCSC Ensembl
chr6:143401215..143401311hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4140160
Supporting Variants
Samples
Known GenesAIG1
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)nssv15979892
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003558


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