A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033739



Internal ID20164402
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76446868..76452409hg38UCSC Ensembl
chr1:76912553..76918094hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15963506
Samples
Known GenesST6GALNAC3
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)nsv4033739
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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