A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789989



Internal ID19862044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187013723..187018237hg38UCSC Ensembl
chr3:186731511..186736025hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg384515
hg194515
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340881
Supporting Variants
Samples
Known GenesST6GAL1
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)nssv15789989
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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