A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4748698



Internal ID20524725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132484120..132484304hg38UCSC Ensembl
chr12:133060706..133060890hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16290853
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4748698
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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