A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4540749



Internal ID20270624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117920270..117920271hg38UCSC Ensembl
chr8:118932509..118932510hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16081712
Samples
Known GenesEXT1
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)nsv4540749
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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