A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4521562



Internal ID20251681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:84781811..84818352hg38UCSC Ensembl
chr3:84830962..84867503hg19UCSC Ensembl
Cytoband3p12.1
Allele length
AssemblyAllele length
hg3836542
hg1936542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15973155
Samples
Known GenesLINC00971
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)nsv4521562
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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