A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199203



Internal ID20408581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:124659432..124666201hg38UCSC Ensembl
chr10:126348001..126354770hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg386770
hg196770
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15799175
Samples
Known GenesFAM53B
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)nsv4199203
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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