A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15864952



Internal ID19936892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:9990996..9993658hg38UCSC Ensembl
chr2:10131124..10133786hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg382663
hg192663
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4067820
Supporting Variants
Samples
Known GenesGRHL1
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)nssv15864952
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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