A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15966138



Internal ID20038080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:25375009..25381509hg38UCSC Ensembl
chr1:25701500..25708000hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386501
hg196501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4044627
Supporting Variants
Samples
Known GenesRHCE
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)nssv15966138
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000462


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