A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4260433



Internal ID20451390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69287110..69290945hg38UCSC Ensembl
chr17:67283251..67287086hg19UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15835311
Samples
Known GenesABCA5
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)nsv4260433
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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