A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5598986



Internal ID21547618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50617056..50618180hg38UCSC Ensembl
chr20:49233593..49234717hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381125
hg191125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116814
SamplesHG03683
Known GenesFAM65C
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5598986
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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