A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4342336



Internal ID19840975
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 StatusM
Merged Variants
Supporting Variantsnssv15787452
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)nsv4342336
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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