A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4532542



Internal ID19915973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:90578767..90726769hg38UCSC Ensembl
chr15:91121999..91270000hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38148003
hg19148002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953426
Samples
Known GenesBLM, CRTC3
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)nsv4532542
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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