A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4557727



Internal ID19940917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:96235642..96235643hg38UCSC Ensembl
chr9:98997924..98997925hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16087319
Samples
Known GenesHSD17B3
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)nsv4557727
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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