A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4732929



Internal ID20508855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128874062..128874121hg38UCSC Ensembl
chr12:129358607..129358666hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16281028
Samples
Known GenesGLT1D1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4732929
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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