A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752016



Internal ID20527876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68757148..68757148hg38UCSC Ensembl
chr2:68984280..68984280hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16280938
Samples
Known GenesARHGAP25
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752016
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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