A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17134933



Internal ID21443667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126515485..126515485hg38UCSC Ensembl
chr3:126234328..126234328hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5622509
Supporting Variants
SamplesHG00732
Known GenesUROC1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17134933
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