A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4339925



Internal ID20187196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:24515459..24546723hg38UCSC Ensembl
chr9:24515457..24546721hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3831265
hg1931265
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791570
Samples
Known GenesIZUMO3
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4339925
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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