A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4043415



Internal ID20171164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39633483..39638358hg38UCSC Ensembl
chr1:40099155..40104030hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg384876
hg194876
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15851050
Samples
Known GenesHEYL
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)nsv4043415
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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