A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4528173



Internal ID19911603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70220113..70221056hg38UCSC Ensembl
chr10:71979869..71980812hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38944
hg19944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795900
Samples
Known GenesPPA1
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)nsv4528173
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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