A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4327823



Internal ID19838769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:74153605..79796526hg38UCSC Ensembl
chr4:75019322..80717680hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg385642922
hg195698359
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16091323
Samples
Known GenesANXA3, AREG, ART3, BMP2K, BTC, C4orf26, CCDC158, CCNG2, CCNI, CDKL2, CNOT6L, CXCL10, CXCL11, CXCL13, CXCL9, EPGN, EREG, FAM47E, FAM47E-STBD1, FRAS1, G3BP2, GK2, LINC00989, LINC01088, LINC01094, LOC441025, MIR4450, MRPL1, MTHFD2L, NAA11, NAAA, NUP54, PAQR3, PARM1, PPEF2, RCHY1, SCARB2, SDAD1, SEPT11, SHROOM3, SOWAHB, 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)nsv4327823
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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