A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16091348



Internal ID19816606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37539786..43176642hg38UCSC Ensembl
chr5:37539888..43176744hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg385636857
hg195636857
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4322917
Supporting Variants
Samples
Known GenesANXA2R, C5orf51, C6, C7, C9, CARD6, CCDC152, DAB2, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, FBXO4, FLJ32255, FYB, GDNF, GDNF-AS1, GHR, LIFR, LIFR-AS1, LINC00603, LOC100132356, LOC100506548, LOC100506639, LOC101926904, LOC101926940, LOC101926960, LOC153684, LOC648987, MIR3650, MROH2B, OSMR, OXCT1, OXCT1-AS1, PLCXD3, PRKAA1, PTGER4, RICTOR, RPL37, SEPP1, SNORD72, TTC33, WDR70, ZNF131
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)nssv16091348
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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