A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452267



Internal ID230427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227567491..227567557hg38UCSC Ensembl
chr1:227755192..227755258hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898251
Samples
Known GenesZNF678
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452267
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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