A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4168047



Internal ID20386202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:100159620..100164632hg38UCSC Ensembl
chr7:99757243..99762255hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg385013
hg195013
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15981914
Samples
Known GenesGAL3ST4
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)nsv4168047
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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