A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15875045



Internal ID19946985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201683073..201683149hg38UCSC Ensembl
chr2:202547796..202547872hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4091008
Supporting Variants
Samples
Known GenesMPP4
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)nssv15875045
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.006362


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