A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472547



Internal ID250253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82812329..82854727hg38UCSC Ensembl
chr6:83522048..83564446hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3842399
hg1942399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988219
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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