A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4569390



Internal ID19952585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:36152154..36160427hg38UCSC Ensembl
chr5:36152256..36160529hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg388274
hg198274
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15790486
Samples
Known GenesSKP2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nsv4569390
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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