A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339361



Internal ID20187074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181222490..181304390hg38UCSC Ensembl
chr5:180649490..180731391hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3881901
hg1981902
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790715
Samples
Known GenesGNB2L1, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1
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)nsv4339361
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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