A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4129111



Internal ID20011342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33706828..33729088hg38UCSC Ensembl
chr6:33674605..33696865hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3822261
hg1922261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15910515
Samples
Known GenesIP6K3, UQCC2
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)nsv4129111
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