A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4107662



Internal ID19996053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138860492..139067570hg38UCSC Ensembl
chr4:139781646..139988724hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38207079
hg19207079
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1873n166
Supporting Variantsnssv15974474
Samples
Known GenesCCRN4L, ELF2
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)nsv4107662
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer