A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15905863



Internal ID19977803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127349973..127361834hg38UCSC Ensembl
chr5:126685665..126697526hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3811862
hg1911862
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4117349
Supporting Variants
Samples
Known GenesMEGF10
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)nssv15905863
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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