A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4193710



Internal ID20404606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7729246..7953009hg38UCSC Ensembl
chr12:7881842..8105605hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38223764
hg19223764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951895
Samples
Known GenesCLEC4C, NANOG, NANOGNB, SLC2A14, SLC2A3
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)nsv4193710
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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