A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4323072



Internal ID19838450
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 StatusM
Merged Variants
Supporting Variantsnssv16090846
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)nsv4323072
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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