A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5607005



Internal ID21555310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112747857..112747857hg38UCSC Ensembl
chr3:112466704..112466704hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg383476
hg193476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123747
SamplesHG00512
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5607005
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