A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4108628



Internal ID19996764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160435470..160439578hg38UCSC Ensembl
chr3:160153258..160157366hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg384109
hg194109
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15971143
Samples
Known GenesTRIM59
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 ID12345678
Accession Number(s)nsv4108628
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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