A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4180767



Internal ID20395305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71465685..71467214hg38UCSC Ensembl
chr10:73225442..73226971hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg381530
hg191530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15795951
Samples
Known GenesCDH23
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 ID32461652
Accession Number(s)nsv4180767
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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