A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv153n166



Internal ID22800052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202161370..202181675hg38UCSC Ensembl
chr1:202130498..202150803hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3820306
hg1920306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4070271, nsv4064117
Samples
Known GenesPTPN7, PTPRVP
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 ID32461652
Accession Number(s)dgv153n166
Frequency
Sample Size10847
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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