A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15970990



Internal ID19696244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:189677844..189678080hg38UCSC Ensembl
chr2:190542570..190542806hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4083154
Supporting Variants
Samples
Known GenesANKAR
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)nssv15970990
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000138


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