A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15808399



Internal ID19533799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8375137..8626646hg38UCSC Ensembl
chr12:8527733..8779242hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38251510
hg19251510
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4199177
Supporting Variants
Samples
Known GenesAICDA, CLEC4D, CLEC4E, CLEC6A, LINC00937
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)nssv15808399
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000049


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