A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4314197



Internal ID20184574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:86353829..87427388hg38UCSC Ensembl
chr9:88968744..90042303hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg381073560
hg191073560
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16090453
Samples
Known GenesC9orf170, GAS1, LOC100506834, LOC440173, LOC494127, ZCCHC6
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)nsv4314197
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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