A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4343204



Internal ID20187826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30322291..30351669hg38UCSC Ensembl
chr13:30896428..30925806hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg3829379
hg1929379
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15787924
Samples
Known GenesLINC00426
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)nsv4343204
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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