A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15930552



Internal ID20002492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38968937..38985158hg38UCSC Ensembl
chr8:38826455..38842677hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg3816222
hg1916223
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4170076
Supporting Variants
Samples
Known GenesHTRA4, PLEKHA2
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)nssv15930552
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000048


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