A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972112



Internal ID19697366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72078..531192hg38UCSC Ensembl
chr4:71970..524981hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38459115
hg19453012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4093540
Supporting Variants
Samples
Known GenesABCA11P, PIGG, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732, ZNF876P
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)nssv15972112
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00023


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer