A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478685



Internal ID256233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:138802270..138803851hg38UCSC Ensembl
chr7:138487015..138488596hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381582
hg191582
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006307
Samples
Known GenesTMEM213
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478685
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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