A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349770



Internal ID21007323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:192097604..192099522hg38UCSC Ensembl
chr2:192962330..192964248hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg381919
hg191919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205441
Samples
Known GenesTMEFF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349770
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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