A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594005



Internal ID21542598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:6117667..6117781hg38UCSC Ensembl
chr20:6098314..6098428hg19UCSC Ensembl
Cytoband20p12.3
Allele length
AssemblyAllele length
hg38115
hg19115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117205
SamplesHG03486
Known GenesFERMT1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594005
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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