A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754009



Internal ID20529869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:9624549..9624549hg38UCSC Ensembl
chr20:9605196..9605196hg19UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281532
Samples
Known GenesPAK7
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754009
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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