A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505668



Internal ID282435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:89353573..89359714hg38UCSC Ensembl
chr12:89747350..89753491hg19UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg386142
hg196142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17689921
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505668
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