A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv213n206



Internal ID22755517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:786267..993308hg38UCSC Ensembl
chr17:689507..896548hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38207042
hg19207042
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5533154, nsv5531727
Samples
Known GenesNXN, RNMTL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)dgv213n206
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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