A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797860



Internal ID19869946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:125815978..125823821hg38UCSC Ensembl
chr10:127504547..127512390hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg387844
hg197844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4207485
Supporting Variants
Samples
Known GenesBCCIP, MIR4484, UROS
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)nssv15797860
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000092


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