A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4237684



Internal ID20089268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:92778839..92867684hg38UCSC Ensembl
chr15:93322069..93410914hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg3888846
hg1988846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15953452
Samples
Known GenesASB9P1
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)nsv4237684
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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