A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4247145



Internal ID20095568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:88678823..88931767hg38UCSC Ensembl
chr15:89222054..89474998hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38252945
hg19252945
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15957120
Samples
Known GenesACAN, HAPLN3, MFGE8
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)nsv4247145
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer