A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4749623



Internal ID20525655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46585648..46585942hg38UCSC Ensembl
chr12:46979431..46979725hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16271428
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4749623
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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