A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16064665



Internal ID19789919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149169064..149169065hg38UCSC Ensembl
chr5:148548627..148548628hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4550046
Supporting Variants
Samples
Known GenesABLIM3
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)nssv16064665
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.096482


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