A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6472408



Internal ID21129961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:71684101..71689100hg38UCSC Ensembl
chr12:72077881..72082880hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg385000
hg195000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183659
Samples
Known GenesTMEM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6472408
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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