A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988733



Internal ID21898076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239130513..239130607hg38UCSC Ensembl
chr2:240052209..240052303hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17532024
Samples
Known GenesHDAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988733
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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