A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4181375



Internal ID20049043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71215543..71216855hg38UCSC Ensembl
chr10:72975300..72976612hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795940
Samples
Known GenesUNC5B
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)nsv4181375
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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