A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4525800



Internal ID19909230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33174001..33262002hg38UCSC Ensembl
chr9:33173999..33262000hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3888002
hg1988002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2763n166
Supporting Variantsnssv15985564
Samples
Known GenesBAG1, LOC101929639, SPINK4
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)nsv4525800
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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