A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4092695



Internal ID20331567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121745676..122710920hg38UCSC Ensembl
chr4:122666831..123632075hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38965245
hg19965245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972806
Samples
Known GenesADAD1, BBS7, CCNA2, EXOSC9, IL2, IL21, IL21-AS1, KIAA1109, PP12613, TMEM155, TRPC3
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)nsv4092695
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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