A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4185345



Internal ID20051909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98582490..99663995hg38UCSC Ensembl
chr9:101344772..102426277hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg381081506
hg191081506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15986811
Samples
Known GenesALG2, ANKS6, COL15A1, GABBR2, GALNT12, NAMA, SEC61B, TGFBR1
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)nsv4185345
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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