A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4325341



Internal ID20185270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:19759779..19807658hg38UCSC Ensembl
chr11:19781325..19829204hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3847880
hg1947880
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091251
Samples
Known GenesMIR4694, NAV2
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4325341
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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