A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5600523



Internal ID21549164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132718358..132718541hg38UCSC Ensembl
chr12:133294944..133295127hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078731
SamplesNA19239
Known GenesPGAM5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5600523
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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