A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4159145



Internal ID20379725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139447615..139501377hg38UCSC Ensembl
chr7:139132361..139186123hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3853763
hg1953763
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15982003
Samples
Known GenesKLRG2
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)nsv4159145
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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