A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598309



Internal ID21546934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:70286114..70288118hg38UCSC Ensembl
chr12:70679894..70681898hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg382005
hg192005
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17090847
SamplesHG00512
Known GenesCNOT2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598309
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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