A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4319727



Internal ID20184922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104224312..105606719hg38UCSC Ensembl
chr5:103560013..104942420hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg381382408
hg191382408
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091362
Samples
Known GenesRAB9BP1
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)nsv4319727
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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