A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597592



Internal ID21546208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18782551..18782608hg38UCSC Ensembl
chr22:18770064..18770121hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17130154
SamplesNA19240
Known GenesGGT3P
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597592
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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