A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4534551



Internal ID19917944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38085572..38221024hg38UCSC Ensembl
chr22:38481579..38617031hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38135453
hg19135453
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15967521
Samples
Known GenesBAIAP2L2, MAFF, PLA2G6, TMEM184B
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)nsv4534551
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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