A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15957507



Internal ID19682761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:55307775..55493742hg38UCSC Ensembl
chr15:55599973..55785940hg19UCSC Ensembl
Cytoband15q21.3
Allele length
AssemblyAllele length
hg38185968
hg19185968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4247248
Supporting Variants
Samples
Known GenesC15orf65, CCPG1, DYX1C1, DYX1C1-CCPG1, MIR628, PIGB
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)nssv15957507
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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