A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4089287



Internal ID20329044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:144239990..144242717hg38UCSC Ensembl
chr2:144997557..145000284hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg382728
hg192728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15874106
Samples
Known GenesGTDC1
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)nsv4089287
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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