A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4101217



Internal ID19991250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:54301100..54691169hg38UCSC Ensembl
chr4:55167267..55557335hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38390070
hg19390069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15974164
Samples
Known GenesKIT
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)nsv4101217
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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