A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4570342



Internal ID20300223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:118169396..118169397hg38UCSC Ensembl
chr4:119090551..119090552hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16057744
Samples
Known GenesNDST3
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)nsv4570342
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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