A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4191673



Internal ID20056450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:79830201..79997331hg38UCSC Ensembl
chr10:81589957..81757087hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38167131
hg19167131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948836
Samples
Known GenesLOC100288974, MBL1P, SFTPD
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)nsv4191673
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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