A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4265518



Internal ID20454944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38448790..38449678hg38UCSC Ensembl
chr17:36605034..36605922hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38889
hg19889
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15833166
Samples
Known GenesARHGAP23
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)nsv4265518
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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