A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15953537



Internal ID19678791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:98930010..99483500hg38UCSC Ensembl
chr15:99473239..100023705hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg38553491
hg19550467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4236792
Supporting Variants
Samples
Known GenesHSP90B2P, IGF1R, LRRC28, PGPEP1L, SYNM, TTC23
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)nssv15953537
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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