A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16053225



Internal ID20125181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:30739450..30739451hg38UCSC Ensembl
chr4:30741072..30741073hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4544210
Supporting Variants
Samples
Known GenesPCDH7
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 ID32461652
Accession Number(s)nssv16053225
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.020485


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