A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458832



Internal ID236853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:126370926..127424730hg38UCSC Ensembl
chr6:126692072..127745875hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg381053805
hg191053804
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969664
Samples
Known GenesCENPW, ECHDC1, RNF146, RSPO3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458832
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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