A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5662432



Internal ID21610737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132717335..132717335hg38UCSC Ensembl
chr12:133293921..133293921hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078730
SamplesHG00731
Known GenesPGAM5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5662432
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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