A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458427



Internal ID21115980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:45724201..45728800hg38UCSC Ensembl
chr12:46117984..46122583hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384600
hg194600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195615
Samples
Known GenesLINC00938
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458427
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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