A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489820



Internal ID21147373
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130837773..130838081hg38UCSC Ensembl
chr12:131322318..131322626hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185030
Samples
Known GenesSTX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489820
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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