A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429380



Internal ID208229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151558973..151560038hg38UCSC Ensembl
chr1:151531449..151532514hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381066
hg191066
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890305
Samples
Known GenesTUFT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429380
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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