A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15797302



Internal ID19522702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97642271..97643457hg38UCSC Ensembl
chr10:99402028..99403214hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4173766
Supporting Variants
Samples
Known GenesPI4K2A
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)nssv15797302
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.001567


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