A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091322



Internal ID19816580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:73455262..76320445hg38UCSC Ensembl
chr4:74320979..77241598hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382865184
hg192920620
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4321288
Supporting Variants
Samples
Known GenesAFM, AFP, AREG, ART3, BTC, C4orf26, CCDC158, CDKL2, CXCL1, CXCL10, CXCL11, CXCL2, CXCL3, CXCL5, CXCL6, CXCL9, EPGN, EREG, FAM47E, FAM47E-STBD1, G3BP2, IL8, LOC441025, LOC728040, MTHFD2L, NAAA, NUP54, PARM1, PF4, PF4V1, PPBP, PPBPP2, PPEF2, RASSF6, RCHY1, SCARB2, SDAD1, STBD1, THAP6, USO1
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
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv16091322
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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