A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4184242



Internal ID20397785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:4907689..4993341hg38UCSC Ensembl
chr10:4949881..5035533hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3885653
hg1985653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15792188
Samples
Known GenesAKR1C1, AKR1C2, AKR1C6P
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)nsv4184242
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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