A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4033320



Internal ID20164107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102410288..102411730hg38UCSC Ensembl
chr14:102876625..102878067hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg381443
hg191443
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15779054, nssv15779055, nssv15794353, nssv15794354, nssv15794355, nssv15779053
Samples
Known GenesTECPR2
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)nsv4033320
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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