A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2411n166



Internal ID22802310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:111106017..111546706hg38UCSC Ensembl
chr7:110746073..111186762hg19UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg38440690
hg19440690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4162842, nsv4167173, nsv4160326, nsv4168088
Samples
Known GenesIMMP2L, LRRN3
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)dgv2411n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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