A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553406



Internal ID326657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228648876..228648876hg38UCSC Ensembl
chr1:228784623..228784623hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897542
Samples
Known GenesDUSP5P1, RHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553406
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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