A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4759225



Internal ID20535085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117406501..117406501hg38UCSC Ensembl
chr1:117949123..117949123hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38316
hg19316
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16261690
Samples
Known GenesMAN1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4759225
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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