A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15798759



Internal ID19870845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:119328377..119332604hg38UCSC Ensembl
chr10:121087889..121092116hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg384228
hg194228
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4205072
Supporting Variants
Samples
Known GenesGRK5
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)nssv15798759
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000138


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