A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4087753



Internal ID19981276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:63053514..63219413hg38UCSC Ensembl
chr3:63039190..63205089hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg38165900
hg19165900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15972546
Samples
Known GenesLINC00698
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)nsv4087753
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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