A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4142620



Internal ID20021059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162368993..162758528hg38UCSC Ensembl
chr6:162790025..163179560hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38389536
hg19389536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15915797
Samples
Known GenesPACRG, PARK2
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 ID12345678
Accession Number(s)nsv4142620
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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