A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789105



Internal ID19861154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232406697..232412559hg38UCSC Ensembl
chr1:232542443..232548305hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg385863
hg195863
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4566103
Supporting Variants
Samples
Known GenesSIPA1L2
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)nssv15789105
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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