A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4137631



Internal ID20017422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127888174..128050139hg38UCSC Ensembl
chr6:128209319..128371284hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg38161966
hg19161966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979537
Samples
Known GenesPTPRK, THEMIS
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)nsv4137631
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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