A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5596334



Internal ID21544942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76011802..76011859hg38UCSC Ensembl
chr12:76405582..76405639hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17093158
SamplesHG03486
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5596334
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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