A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4095438



Internal ID20333674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:142000264..142001559hg38UCSC Ensembl
chr3:141719106..141720401hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg381296
hg191296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15883593
Samples
Known GenesTFDP2
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)nsv4095438
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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