A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4752800



Internal ID20528660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107914285..107914285hg38UCSC Ensembl
chr12:108308062..108308062hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383877
hg193877
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16288856
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4752800
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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