A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4741643



Internal ID20517620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128285711..128285849hg38UCSC Ensembl
chr12:128770256..128770394hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38139
hg19139
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16270798
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4741643
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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