A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4334498



Internal ID19839448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:81253426..84328112hg38UCSC Ensembl
chr13:81827561..84902247hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg383074687
hg193074687
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15788014
Samples
Known GenesLINC00333, SLITRK1
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)nsv4334498
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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