A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4131404



Internal ID20012944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:16245111..16250669hg38UCSC Ensembl
chr6:16245342..16250900hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg385559
hg195559
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978256
Samples
Known GenesGMPR
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)nsv4131404
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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