A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4527970



Internal ID20258089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:68286233..68287431hg38UCSC Ensembl
chr10:70045990..70047188hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg381199
hg191199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795816
Samples
Known GenesPBLD
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)nsv4527970
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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