A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4179924



Internal ID20048045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127499841..127708237hg38UCSC Ensembl
chr9:130262120..130470516hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38208397
hg19208397
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15987190
Samples
Known GenesC9orf117, FAM129B, LRSAM1, MIR3911, STXBP1
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)nsv4179924
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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