A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4519661



Internal ID20249780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99404093..99404149hg38UCSC Ensembl
chr2:100020556..100020612hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15969694
Samples
Known GenesREV1
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)nsv4519661
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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