A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4042429



Internal ID20170465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133765675..133787025hg38UCSC Ensembl
chr10:135503000..135524350hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3821351
hg1921351
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15778116, nssv15778112, nssv15778111, nssv15778115, nssv15778114, nssv15778119, nssv15778120, nssv15778117, nssv15778123, nssv15778122, nssv15778113, nssv15778121, nssv15778118
Samples
Known Genes
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 ID32461652
Accession Number(s)nsv4042429
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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