A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4276462



Internal ID20461525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44863100..44863285hg38UCSC Ensembl
chr21:46283015..46283200hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15966743
Samples
Known GenesPTTG1IP
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)nsv4276462
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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