A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457206



Internal ID235256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:43279993..43280050hg38UCSC Ensembl
chr6:43247731..43247788hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981672
Samples
Known GenesTTBK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457206
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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