A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4096092



Internal ID20334144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82441543..82442393hg38UCSC Ensembl
chr4:83362696..83363546hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38851
hg19851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15892996
Samples
Known GenesENOPH1
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)nsv4096092
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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