A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4153525



Internal ID20375631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72736383..72745827hg38UCSC Ensembl
chr8:73648618..73658062hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg389445
hg199445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15931093
Samples
Known GenesKCNB2
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)nsv4153525
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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