A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15812349



Internal ID19884435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:106700397..106700804hg38UCSC Ensembl
chr12:107094175..107094582hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38408
hg19408
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4530584
Supporting Variants
Samples
Known GenesLOC100287944, RFX4
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 ID32461652
Accession Number(s)nssv15812349
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.002166


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