A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4222034



Internal ID20425001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89000880..89054088hg38UCSC Ensembl
chr12:89394657..89447865hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg3853209
hg1953209
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15948736
Samples
Known GenesLOC728084
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)nsv4222034
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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