A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489657



Internal ID21147210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128269347..128278765hg38UCSC Ensembl
chr12:128753892..128763310hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg389419
hg199419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186146
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489657
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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