A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4750898



Internal ID20526758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128977462..128977462hg38UCSC Ensembl
chr12:129462007..129462007hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16262018
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4750898
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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