A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15929398



Internal ID20001338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119629107..119633326hg38UCSC Ensembl
chr8:120641347..120645566hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg384220
hg194220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4164727
Supporting Variants
Samples
Known GenesENPP2
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)nssv15929398
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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