A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425172



Internal ID204143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46795835..46837835hg38UCSC Ensembl
chr1:47261507..47303507hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3842001
hg1942001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901895
Samples
Known GenesCYP4B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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