A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4109759



Internal ID20344310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129102157..129109157hg38UCSC Ensembl
chr3:128821000..128828000hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15886188
Samples
Known GenesISY1-RAB43, RAB43
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)nsv4109759
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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