A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4171621



Internal ID20042134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158587446..158658191hg38UCSC Ensembl
chr7:158380138..158450883hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3870746
hg1970746
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2499n166
Supporting Variantsnssv15983000
Samples
Known GenesMIR5707, NCAPG2, PTPRN2
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)nsv4171621
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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