A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4063887



Internal ID19963819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247906731..248623796hg38UCSC Ensembl
chr1:248070033..248787097hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38717066
hg19717065
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv201n166
Supporting Variantsnssv15965236
Samples
Known GenesOR14C36, OR2AK2, OR2G6, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T12, OR2T2, OR2T29, OR2T3, OR2T33, OR2T34, OR2T4, OR2T5, OR2T6, OR2T8
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)nsv4063887
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