A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4326687



Internal ID19838696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:127817051..129001533hg38UCSC Ensembl
chr3:127535894..128720376hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg381184483
hg191184483
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091192
Samples
Known GenesACAD9, C3orf27, DNAJB8, DNAJB8-AS1, EEFSEC, GATA2, KBTBD12, KIAA1257, LOC653712, LOC90246, MGLL, RAB7A, RPN1, RUVBL1, SEC61A1
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)nsv4326687
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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