A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4242053



Internal ID20438870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:40805590..40806854hg38UCSC Ensembl
chr15:41097788..41099052hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381265
hg191265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15824059
Samples
Known GenesDNAJC17
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)nsv4242053
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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