A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6352418



Internal ID21009971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69619101..69624400hg38UCSC Ensembl
chr2:69846233..69851532hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206984
Samples
Known GenesAAK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6352418
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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