A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4544256



Internal ID19927445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39514827..39514828hg38UCSC Ensembl
chr4:39516447..39516448hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38106
hg19106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16051684
Samples
Known GenesMIR1273H, UGDH
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)nsv4544256
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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