A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15956358



Internal ID19681612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:34167798..34386799hg38UCSC Ensembl
chr15:34459999..34679000hg19UCSC Ensembl
Cytoband15q14
Allele length
AssemblyAllele length
hg38219002
hg19219002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4529143
Supporting Variants
Samples
Known GenesEMC4, GOLGA8A, KATNBL1, LPCAT4, MIR1233-1, MIR1233-2, NOP10, NUTM1, SLC12A6
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)nssv15956358
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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