A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446038



Internal ID224369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207123354..207123406hg38UCSC Ensembl
chr1:207296699..207296751hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894974
Samples
Known GenesC4BPA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446038
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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