A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4560781



Internal ID20290664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68949283..68949284hg38UCSC Ensembl
chr2:69176415..69176416hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16035653
Samples
Known GenesGKN2
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)nsv4560781
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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