A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5525019



Internal ID301196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8305883..8356856hg38UCSC Ensembl
chr17:8209201..8260174hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3850974
hg1950974
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711262
Samples
Known GenesARHGEF15, ODF4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5525019
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