A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15964027



Internal ID19689281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200010871..200033872hg38UCSC Ensembl
chr1:199979999..200003000hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3823002
hg1923002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4517173
Supporting Variants
Samples
Known GenesNR5A2
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)nssv15964027
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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