A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787721



Internal ID19513063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20907972..21582861hg38UCSC Ensembl
chr12:21060906..21735795hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38674890
hg19674890
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4335337
Supporting Variants
Samples
Known GenesC12orf39, GOLT1B, GYS2, IAPP, PYROXD1, RECQL, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7
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)nssv15787721
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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