A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5594562



Internal ID21543161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43175933..43176182hg38UCSC Ensembl
chr20:41804573..41804822hg19UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg38250
hg19250
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17116566
SamplesHG03683
Known GenesPTPRT
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5594562
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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