A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4055841



Internal ID20179942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119825997..119835110hg38UCSC Ensembl
chr1:120368620..120377733hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg389114
hg199114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15855727
Samples
Known GenesNBPF7
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)nsv4055841
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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