A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475643



Internal ID253280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135001394..135011662hg38UCSC Ensembl
chr7:134686145..134696413hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg3810269
hg1910269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003657
Samples
Known GenesAGBL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475643
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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