A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493466



Internal ID270644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138102818..138105183hg38UCSC Ensembl
chr7:137787564..137789929hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382366
hg192366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003717
Samples
Known GenesAKR1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493466
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