A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4117451



Internal ID20349797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:1924110..2490629hg38UCSC Ensembl
chr6:1924344..2490863hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38566520
hg19566520
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15977914
Samples
Known GenesGMDS, GMDS-AS1
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)nsv4117451
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