A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4158446



Internal ID20379232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:133256259..133595672hg38UCSC Ensembl
chr7:132941015..133280426hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38339414
hg19339412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15923883
Samples
Known GenesEXOC4, MIR6133
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)nsv4158446
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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