A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15902773



Internal ID19974713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:117465496..117466157hg38UCSC Ensembl
chr5:116801192..116801853hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38662
hg19662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4124375
Supporting Variants
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)nssv15902773
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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