A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4572817



Internal ID20302693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62408379..62408380hg38UCSC Ensembl
chr12:62802159..62802160hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16000735
Samples
Known GenesUSP15
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)nsv4572817
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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