A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590053



Internal ID21538621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63559641..63559718hg38UCSC Ensembl
chr20:62190994..62191071hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17117451
SamplesHG00512
Known GenesHELZ2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590053
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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