A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4200577



Internal ID20409602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67334794..67336592hg38UCSC Ensembl
chr11:67102265..67104063hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg381799
hg191799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947422
Samples
Known GenesLOC100130987
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)nsv4200577
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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