A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15796235



Internal ID19521635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:77856445..78001808hg38UCSC Ensembl
chr10:79616203..79761566hg19UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg38145364
hg19145364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4186427
Supporting Variants
Samples
Known GenesDLG5, DLG5-AS1, POLR3A
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)nssv15796235
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000046


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