A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4559962



Internal ID20289845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138928035..138928036hg38UCSC Ensembl
chr6:139249172..139249173hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg382124
hg192124
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16070993
Samples
Known GenesREPS1
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)nsv4559962
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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