A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15971094



Internal ID19696348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201919276..202088883hg38UCSC Ensembl
chr2:202783999..202953606hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38169608
hg19169608
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4082848
Supporting Variants
Samples
Known GenesFZD7, LOC100652824
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)nssv15971094
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000092


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