A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15973520



Internal ID19698774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145682782..145682961hg38UCSC Ensembl
chr4:146603934..146604113hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4094181
Supporting Variants
Samples
Known GenesC4orf51
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)nssv15973520
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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