A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4538016



Internal ID20216211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231118124..231118125hg38UCSC Ensembl
chr2:231982838..231982839hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16044008
Samples
Known GenesHTR2B, PSMD1
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)nsv4538016
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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