A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4093796



Internal ID19985739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169007578..169013605hg38UCSC Ensembl
chr4:169928729..169934756hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg386028
hg196028
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15897666
Samples
Known GenesCBR4
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 ID12345678
Accession Number(s)nsv4093796
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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