A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4568360



Internal ID20298243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29631931..29910233hg38UCSC Ensembl
chr7:29671547..29949849hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38278303
hg19278303
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15791035
Samples
Known GenesDPY19L2P3, LOC646762, MIR550A3, WIPF3, ZNRF2P2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nsv4568360
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer