A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146327



Internal ID345532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32843972..32844023hg38UCSC Ensembl
chr22:33239959..33240010hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728570
Samples
Known GenesSYN3, TIMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146327
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