A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791233



Internal ID19516620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134227291..134623480hg38UCSC Ensembl
chr7:133912043..134308232hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38396190
hg19396190
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339797
Supporting Variants
Samples
Known GenesAKR1B1, AKR1B10, AKR1B15, LRGUK, SLC35B4
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)nssv15791233
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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