A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4266984



Internal ID20109289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66211028..66214163hg38UCSC Ensembl
chr17:64207146..64210281hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg383136
hg193136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15834671
Samples
Known GenesAPOH
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)nsv4266984
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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