A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466712



Internal ID244543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127826123..127826210hg38UCSC Ensembl
chr6:128147268..128147355hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969098
Samples
Known GenesTHEMIS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466712
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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