A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4035524



Internal ID20165674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18176333..18201233hg38UCSC Ensembl
chr22:18659100..18684000hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3824901
hg1924901
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15781999, nssv15782002, nssv15782001, nssv15781996, nssv15782000, nssv15781998, nssv15782003, nssv15781995, nssv15781997
Samples
Known GenesUSP18
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)nsv4035524
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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