A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791656



Internal ID19517050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114053311..114343346hg38UCSC Ensembl
chr9:116815591..117105626hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38290036
hg19290036
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4334096
Supporting Variants
Samples
Known GenesAKNA, AMBP, COL27A1, KIF12, MIR455, ORM1, ORM2, ZNF618
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)nssv15791656
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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