A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4080195



Internal ID19975714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:65467735..67235727hg38UCSC Ensembl
chr3:65453410..67286151hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg381767993
hg191832742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972570
Samples
Known GenesKBTBD8, LRIG1, MAGI1, MAGI1-AS1, MIR4272, SLC25A26
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)nsv4080195
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