A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4084205



Internal ID20325364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214481601..214519784hg38UCSC Ensembl
chr2:215346325..215384508hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3838184
hg1938184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15970004
Samples
Known GenesVWC2L, VWC2L-IT1
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)nsv4084205
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer