A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4076129



Internal ID20319393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:145828105..146862905hg38UCSC Ensembl
chr2:146585673..147620473hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381034801
hg191034801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970435
Samples
Known GenesPABPC1P2
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)nsv4076129
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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