A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573008



Internal ID21521405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239346021..239346094hg38UCSC Ensembl
chr2:240267716..240267789hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112427
SamplesHG03065
Known GenesHDAC4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573008
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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