A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6031329



Internal ID21940672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125493775..125493907hg38UCSC Ensembl
chr12:125978321..125978453hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17600200
Samples
Known GenesTMEM132B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6031329
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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