A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469337



Internal ID247126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44880448..44886190hg38UCSC Ensembl
chr6:44848185..44853927hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg385743
hg195743
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981429
Samples
Known GenesSUPT3H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469337
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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