A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4199037



Internal ID20408465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7689192..7707727hg38UCSC Ensembl
chr12:7841788..7860323hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3818536
hg1918536
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15951892
Samples
Known GenesGDF3
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)nsv4199037
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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