A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445594



Internal ID223940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:191141239..191158467hg38UCSC Ensembl
chr1:191110369..191127597hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3817229
hg1917229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893453
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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