A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597030



Internal ID21545640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2433457..2433667hg38UCSC Ensembl
chr19:2433455..2433665hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17104057
SamplesHG03065
Known GenesLMNB2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597030
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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