A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748134



Internal ID20524158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:122867234..122868247hg38UCSC Ensembl
chr9:125629513..125630526hg19UCSC Ensembl
Cytoband9q33.2
Allele length
AssemblyAllele length
hg381014
hg191014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16274274
Samples
Known GenesRC3H2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748134
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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