A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787869



Internal ID19859899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113286181..113299482hg38UCSC Ensembl
chr12:113723986..113737287hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3813302
hg1913302
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342640
Supporting Variants
Samples
Known GenesMIR6762, SLC8B1, TPCN1
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15787869
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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