A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4241015



Internal ID20091516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:24916394..25059661hg38UCSC Ensembl
chr16:24927715..25070982hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38143268
hg19143268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15828687
Samples
Known GenesARHGAP17, LOC554206
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)nsv4241015
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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