A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4523982



Internal ID20254101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161780967..162146968hg38UCSC Ensembl
chr6:162201999..162568000hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38366002
hg19366002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979269
Samples
Known GenesPARK2
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)nsv4523982
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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