A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531727



Internal ID307675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:786267..950187hg38UCSC Ensembl
chr17:689507..853427hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38163921
hg19163921
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv213n206
Supporting Variantsnssv17710715
Samples
Known GenesNXN, RNMTL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531727
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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