A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4754343



Internal ID20530203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:39423333..39423333hg38UCSC Ensembl
chr5:39423435..39423435hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16283622
Samples
Known GenesDAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4754343
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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