A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4220151



Internal ID20423676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:87787766..87821561hg38UCSC Ensembl
chr13:88440021..88473816hg19UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg3833796
hg1933796
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15956563
Samples
Known GenesLINC00397
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)nsv4220151
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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