A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15972335



Internal ID19697589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136252660..136254540hg38UCSC Ensembl
chr3:135971502..135973382hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg381881
hg191881
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4520684
Supporting Variants
Samples
Known GenesPCCB
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)nssv15972335
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000046


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