A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4242853



Internal ID20439401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55409217..55411662hg38UCSC Ensembl
chr15:55701415..55703860hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg382446
hg192446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15826013
Samples
Known GenesC15orf65, DYX1C1-CCPG1
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)nsv4242853
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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