A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4141834



Internal ID20367183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:718582..724170hg38UCSC Ensembl
chr7:758219..763807hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg385589
hg195589
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15917389
Samples
Known GenesPRKAR1B
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)nsv4141834
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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