A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532669



Internal ID20262788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70545780..70647968hg38UCSC Ensembl
chr18:68213016..68315204hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38102189
hg19102189
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15961397
Samples
Known GenesGTSCR1
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)nsv4532669
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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