A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465282



Internal ID243148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:87688507..87689246hg38UCSC Ensembl
chr6:88398225..88398964hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16985014
Samples
Known GenesAKIRIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465282
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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