A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4249754



Internal ID20097343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:7010681..7015931hg38UCSC Ensembl
chr17:6914000..6919250hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg385251
hg195251
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15959225
Samples
Known GenesALOX12, C17orf49, LOC100506713, MIR497HG, RNASEK, RNASEK-C17orf49
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)nsv4249754
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