A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4336468



Internal ID19839807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231556110..231560740hg38UCSC Ensembl
chr1:231691856..231696486hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg384631
hg194631
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15789101
Samples
Known GenesTSNAX, TSNAX-DISC1
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)nsv4336468
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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