A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4201277



Internal ID20410108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:64863933..64865373hg38UCSC Ensembl
chr11:64631405..64632845hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg381441
hg191441
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15947382
Samples
Known GenesEHD1
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)nsv4201277
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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