A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788798



Internal ID19514158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42891963..43386165hg38UCSC Ensembl
chr19:43396115..43890317hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38494203
hg19494203
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4570153
Supporting Variants
Samples
Known GenesCD177, LOC284344, PRG1, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15788798
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00023


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