A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446489



Internal ID224812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216752928..216753018hg38UCSC Ensembl
chr1:216926270..216926360hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897083
Samples
Known GenesESRRG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446489
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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