A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482747



Internal ID21140300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128457013..128460450hg38UCSC Ensembl
chr12:128941558..128944995hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg383438
hg193438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997535
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482747
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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