A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4105104



Internal ID20340848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41879678..41882065hg38UCSC Ensembl
chr4:41881695..41884082hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg382388
hg192388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15890066
Samples
Known GenesLINC00682
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)nsv4105104
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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