A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450897



Internal ID229091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:236505900..236650119hg38UCSC Ensembl
chr1:236669200..236813419hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38144220
hg19144220
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898750
Samples
Known GenesHEATR1, LGALS8, LGALS8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450897
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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