A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457409



Internal ID235454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12826602..12828378hg38UCSC Ensembl
chr6:12826834..12828610hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979631
Samples
Known GenesPHACTR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457409
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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