A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5428061



Internal ID206942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:95004679..95004783hg38UCSC Ensembl
chr1:95470235..95470339hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906976
Samples
Known GenesALG14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5428061
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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