A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336245



Internal ID20186457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:22369800..22743887hg38UCSC Ensembl
chr9:22369799..22743886hg19UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg38374088
hg19374088
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791568
Samples
Known GenesDMRTA1, FLJ35282
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)nsv4336245
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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