A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15947542



Internal ID19672796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132053839..132751795hg38UCSC Ensembl
chr10:133867343..134565299hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38697957
hg19697957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4203636
Supporting Variants
Samples
Known GenesC10orf91, DPYSL4, INPP5A, JAKMIP3, LRRC27, PWWP2B, STK32C
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)nssv15947542
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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