A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4757469



Internal ID20533329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78588789..78588789hg38UCSC Ensembl
chr12:78982569..78982569hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16275844
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4757469
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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