A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596751



Internal ID21545360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130997380..130997459hg38UCSC Ensembl
chr12:131481925..131482004hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078322
SamplesHG00864
Known GenesGPR133
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596751
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