A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4075980



Internal ID20319286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190484574..190515968hg38UCSC Ensembl
chr2:191349300..191380694hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3831395
hg1931395
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970228
Samples
Known GenesMFSD6, TMEM194B
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)nsv4075980
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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