A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342963



Internal ID20187785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180989039..181073600hg38UCSC Ensembl
chr5:180416039..180500600hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3884562
hg1984562
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790711
Samples
Known GenesBTNL3, BTNL9, MIR8089
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)nsv4342963
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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