A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791674



Internal ID19517068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124727633..124810038hg38UCSC Ensembl
chr9:127489912..127572317hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3882406
hg1982406
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4336162
Supporting Variants
Samples
Known GenesNR6A1, OLFML2A
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 ID12345678
Accession Number(s)nssv15791674
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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