A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4325867



Internal ID19838638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57197761..57198658hg38UCSC Ensembl
chr6:57062559..57063456hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg38898
hg19898
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090376
Samples
Known GenesRAB23
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)nsv4325867
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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