A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547604



Internal ID321433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41500022..41548873hg38UCSC Ensembl
chr22:41896026..41944877hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3848852
hg1948852
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729149
Samples
Known GenesACO2, POLR3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547604
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