A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425747



Internal ID204703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:47069835..47125835hg38UCSC Ensembl
chr1:47535507..47591507hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3856001
hg1956001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902627
Samples
Known GenesCYP4Z1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425747
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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