A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4753546



Internal ID20529406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:105044594..105044594hg38UCSC Ensembl
chr12:105438372..105438372hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289323
Samples
Known GenesALDH1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4753546
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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