A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5600140



Internal ID21548778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101478888..101478938hg38UCSC Ensembl
chr12:101872666..101872716hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077041
SamplesHG00096
Known GenesSPIC
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5600140
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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