A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433486



Internal ID212198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46777835..46897835hg38UCSC Ensembl
chr1:47243507..47363507hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38120001
hg19120001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901893
Samples
Known GenesCYP4B1, CYP4Z2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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