A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15985578



Internal ID19710832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:33604746..33731242hg38UCSC Ensembl
chr9:33604744..33731240hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg38126497
hg19126497
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4187913
Supporting Variants
Samples
Known GenesANXA2P2, PTENP1, PTENP1-AS
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)nssv15985578
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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