A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16012048



Internal ID19737302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:64401734..64401735hg38UCSC Ensembl
chr15:64693933..64693934hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38833
hg19833
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4557122
Supporting Variants
Samples
Known GenesTRIP4
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)nssv16012048
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000599


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