A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4324882



Internal ID19838556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11086774..14472375hg38UCSC Ensembl
chr6:11087007..14472606hg19UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg383385602
hg193385600
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090175
Samples
Known GenesADTRP, CD83, EDN1, ERVFRD-1, GFOD1, HIVEP1, LINC01108, LOC100130357, MCUR1, NEDD9, NOL7, PHACTR1, RANBP9, RNF182, RNU6-48P, SIRT5, SMIM13, TBC1D7, TMEM170B
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 ID12345678
Accession Number(s)nsv4324882
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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