A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15787452



Internal ID19512790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116878931..119403743hg38UCSC Ensembl
chr10:118638442..121163255hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg382524813
hg192524814
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4342336
Supporting Variants
Samples
Known GenesCACUL1, CASC2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM45A, FAM45B, GRK5, KCNK18, KIAA1598, LINC00867, MIR3663, MIR4681, NANOS1, PDZD8, PRDX3, PRLHR, RAB11FIP2, SFXN4, SLC18A2, SNORA19, VAX1
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 ID12345678
Accession Number(s)nssv15787452
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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