A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077423



Internal ID21473525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11267592..11267592hg38UCSC Ensembl
chr12:11420526..11420526hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38126
hg19126
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649697
Supporting Variants
SamplesHG03371
Known GenesPRB3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077423
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