A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4170807



Internal ID20041566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98678446..99084545hg38UCSC Ensembl
chr8:99690674..100096773hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg38406100
hg19406100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15984339
Samples
Known GenesOSR2, STK3, VPS13B
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 ID12345678
Accession Number(s)nsv4170807
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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