A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4073154



Internal ID20317204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:115355506..115366003hg38UCSC Ensembl
chr2:116113082..116123579hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3810498
hg1910498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15870466
Samples
Known GenesDPP10
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)nsv4073154
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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