A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5611271



Internal ID21559576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131482744..131482744hg38UCSC Ensembl
chr3:131201588..131201588hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123229
SamplesHG02587
Known GenesMRPL3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5611271
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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