A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945904



Internal ID20017845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:25598033..25688226hg38UCSC Ensembl
chr10:25886962..25977155hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg3890194
hg1990194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4174604
Supporting Variants
Samples
Known GenesGPR158, LINC00836
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)nssv15945904
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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