A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4107707



Internal ID19996084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:139307787..139315970hg38UCSC Ensembl
chr4:140228941..140237124hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg388184
hg198184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1874n166
Supporting Variantsnssv15895835
Samples
Known GenesNAA15
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)nsv4107707
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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