A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970429



Internal ID19695683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132099556..132925395hg38UCSC Ensembl
chr2:132857129..133682968hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38825840
hg19825840
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4077402
Supporting Variants
Samples
Known GenesANKRD30BL, GPR39, LYPD1, MIR663B, MIR7853, NCKAP5
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)nssv15970429
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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