A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4072518



Internal ID20316737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189000279..189000335hg38UCSC Ensembl
chr2:189865005..189865061hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15874602
Samples
Known GenesCOL3A1
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)nsv4072518
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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