A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4144765



Internal ID20022581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:122357429..122421968hg38UCSC Ensembl
chr6:122678574..122743113hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3864540
hg1964540
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979163
Samples
Known GenesHSF2
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)nsv4144765
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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