A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4262869



Internal ID20453093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81286289..81424235hg38UCSC Ensembl
chr17:79260089..79398035hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38137947
hg19137947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15958383
Samples
Known GenesBAHCC1, LINC00482, LOC100130370, MIR4740, SLC38A10, TMEM105
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)nsv4262869
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