A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4106602



Internal ID20341958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:87303848..87345848hg38UCSC Ensembl
chr4:88225000..88267000hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3842001
hg1942001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15975492
Samples
Known GenesHSD17B11, HSD17B13
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)nsv4106602
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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