A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5574367



Internal ID21522782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239130455..239130548hg38UCSC Ensembl
chr2:240052151..240052244hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17112409
SamplesHG01596
Known GenesHDAC4
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5574367
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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