A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4543467



Internal ID20273342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:101595249..101595250hg38UCSC Ensembl
chr8:102607477..102607478hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16082209
Samples
Known GenesGRHL2
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)nsv4543467
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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