A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148134



Internal ID20371750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:109219003..109250527hg38UCSC Ensembl
chr6:109540206..109571730hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3831525
hg1931525
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15979128
Samples
Known GenesLOC100996634
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)nsv4148134
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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