A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453207



Internal ID231339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209761662..209762730hg38UCSC Ensembl
chr1:209935007..209936075hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg381069
hg191069
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896979
Samples
Known GenesTRAF3IP3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453207
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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