A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4125677



Internal ID20008880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:34754733..34919575hg38UCSC Ensembl
chr6:34722510..34887352hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg38164843
hg19164843
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978382
Samples
Known GenesANKS1A, SNRPC, TAF11, UHRF1BP1
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 ID12345678
Accession Number(s)nsv4125677
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