A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4177534



Internal ID20046322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:72373488..72606850hg38UCSC Ensembl
chr10:74133246..74366608hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38233363
hg19233363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv272n166
Supporting Variantsnssv15951472
Samples
Known GenesMICU1, MIR1256
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)nsv4177534
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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