A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15994176



Internal ID20066132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97592730..97592731hg38UCSC Ensembl
chr10:99352487..99352488hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg381210
hg191210
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4576930
Supporting Variants
Samples
Known GenesHOGA1
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)nssv15994176
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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