A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249247



Internal ID20097000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:90721601..90722364hg38UCSC Ensembl
chr15:91264832..91265595hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38764
hg19764
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15827460
Samples
Known GenesBLM
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)nsv4249247
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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