A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15788823



Internal ID19514183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54297012..54576687hg38UCSC Ensembl
chr19:54801097..55088154hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38279676
hg19287058
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4559571
Supporting Variants
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA2, LILRA3, LILRA4, LILRA5, TTYH1
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)nssv15788823
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000046


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