A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237394



Internal ID20435752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:32696799..32850199hg38UCSC Ensembl
chr15:32989000..33142400hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38153401
hg19153401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956333
Samples
Known GenesFMN1, GREM1, LOC100131315, SCG5
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 ID32461652
Accession Number(s)nsv4237394
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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