A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076110



Internal ID20319380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126633705..126665013hg38UCSC Ensembl
chr3:126352548..126383856hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3831309
hg1931309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883851
Samples
Known GenesNUP210P1, TXNRD3
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)nsv4076110
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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