A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4122195



Internal ID20353145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117525345..117542115hg38UCSC Ensembl
chr5:116861040..116877810hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3816771
hg1916771
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15902779
Samples
Known GenesLINC00992
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)nsv4122195
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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