A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5593745



Internal ID21542336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128971679..128971735hg38UCSC Ensembl
chr12:129456224..129456280hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17078263
SamplesHG00732
Known GenesGLT1D1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5593745
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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