A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15945126



Internal ID19670380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4884807..5206537hg38UCSC Ensembl
chr10:4926999..5248500hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg38321731
hg19321502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4526555
Supporting Variants
Samples
Known GenesAKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1C6P, AKR1CL1
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 ID12345678
Accession Number(s)nssv15945126
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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