A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4128566



Internal ID20010962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27535526..27745500hg38UCSC Ensembl
chr6:27503305..27713279hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38209975
hg19209975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15978338
Samples
Known GenesLINC01012
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)nsv4128566
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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