A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4327619



Internal ID19838759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119505074..119505430hg38UCSC Ensembl
chr10:121264586..121264942hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091244
Samples
Known GenesRGS10
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)nsv4327619
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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