A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5601200



Internal ID21549844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100636549..100637244hg38UCSC Ensembl
chr12:101030327..101031022hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17077029
SamplesNA12878
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5601200
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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