A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4112226



Internal ID20346123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172634724..172732646hg38UCSC Ensembl
chr4:173555875..173653797hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3897923
hg1997923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975643
Samples
Known GenesGALNTL6
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)nsv4112226
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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