A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15980854



Internal ID19706108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:32686976..35030725hg38UCSC Ensembl
chr7:32726588..35070337hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg382343750
hg192343750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4134691
Supporting Variants
Samples
Known GenesBBS9, BMPER, DPY19L1, DPY19L1P1, FKBP9, KBTBD2, LINC00997, MIR550A2, MIR550B2, NPSR1, NPSR1-AS1, NT5C3A, RP9, RP9P, ZNRF2P1
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)nssv15980854
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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