A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787685



Internal ID19513026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1394270..1573913hg38UCSC Ensembl
chr12:1503436..1683079hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38179644
hg19179644
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4341162
Supporting Variants
Samples
Known GenesERC1, FBXL14, LINC00942
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 ID12345678
Accession Number(s)nssv15787685
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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