A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4173643



Internal ID20043582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89142836..89270026hg38UCSC Ensembl
chr10:90902593..91029783hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg38127191
hg19127191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15796843
Samples
Known GenesCH25H, LIPA
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)nsv4173643
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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