A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6479046



Internal ID21136599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120709801..120711400hg38UCSC Ensembl
chr12:121147604..121149203hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18189800
Samples
Known GenesUNC119B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6479046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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