A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16090846



Internal ID19816110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65793879..70322613hg38UCSC Ensembl
chr14:66260597..70789330hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384528735
hg194528734
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4323072
Supporting Variants
Samples
Known GenesACTN1, ACTN1-AS1, ADAM21P1, ARG2, ATP6V1D, CCDC177, DCAF5, EIF2S1, ERH, EXD2, FAM71D, GALNT16, GPHN, KIAA0247, LINC00238, LOC100289511, MPP5, PIGH, PLEK2, PLEKHD1, PLEKHH1, RAD51B, RDH11, RDH12, SLC10A1, SLC39A9, SLC8A3, SMOC1, SRSF5, TMEM229B, VTI1B, ZFP36L1, ZFYVE26
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)nssv16090846
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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