A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15867712



Internal ID19592966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73203609..73204115hg38UCSC Ensembl
chr2:73430737..73431243hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg38507
hg19507
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4056240
Supporting Variants
Samples
Known GenesNOTO
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)nssv15867712
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.21825


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