A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16013393



Internal ID19738647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:69190571..69190572hg38UCSC Ensembl
chr15:69482910..69482911hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4538059
Supporting Variants
Samples
Known GenesGLCE, MIR548H4
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)nssv16013393
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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