A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4265008



Internal ID20454583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77105381..77120368hg38UCSC Ensembl
chr18:74817337..74832324hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg3814988
hg1914988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15841662
Samples
Known GenesMBP
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)nsv4265008
Frequency
Sample Size10847
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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