A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4101303



Internal ID20337994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15056969..15057039hg38UCSC Ensembl
chr4:15058593..15058663hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15888600
Samples
Known GenesCPEB2
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)nsv4101303
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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