A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15976421



Internal ID19701675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134406640..134407554hg38UCSC Ensembl
chr5:133742331..133743245hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38915
hg19915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4116160
Supporting Variants
Samples
Known GenesCDKN2AIPNL
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)nssv15976421
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000323


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