A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15790781



Internal ID19516160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49738181..49739736hg38UCSC Ensembl
chr6:49705894..49707449hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381556
hg191556
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4558927
Supporting Variants
Samples
Known GenesCRISP3
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)nssv15790781
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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