A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4287195



Internal ID20466259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21725362..21737316hg38UCSC Ensembl
chr22:22079651..22091605hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3811955
hg1911955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15864688
Samples
Known GenesYPEL1
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)nsv4287195
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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