A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15791694



Internal ID19517088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137262259..137545969hg38UCSC Ensembl
chr9:140156711..140440421hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38283711
hg19283711
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4340410
Supporting Variants
Samples
Known GenesENTPD8, EXD3, MIR7114, NELFB, NOXA1, NRARP, NSMF, PNPLA7, TOR4A
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)nssv15791694
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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