A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16063749



Internal ID19789003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134212443..134212444hg38UCSC Ensembl
chr5:133548134..133548135hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4549179
Supporting Variants
Samples
Known GenesPPP2CA
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)nssv16063749
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000553


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