A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450565



Internal ID228768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242172000..242184364hg38UCSC Ensembl
chr1:242335302..242347666hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3812365
hg1912365
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899523
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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