A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4118745



Internal ID20004036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74701688..74725412hg38UCSC Ensembl
chr5:73997513..74021237hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3823725
hg1923725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15976926
Samples
Known GenesGFM2, HEXB
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)nsv4118745
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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