A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462001



Internal ID239941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42408630..42413719hg38UCSC Ensembl
chr6:42376368..42381457hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385090
hg195090
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981629
Samples
Known GenesTRERF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462001
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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