A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15987396



Internal ID20059337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137588624..137599573hg38UCSC Ensembl
chr9:140483076..140494025hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810950
hg1910950
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4190362
Supporting Variants
Samples
Known GenesZMYND19
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)nssv15987396
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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