A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480105



Internal ID257615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:50711663..50715723hg38UCSC Ensembl
chr7:50779360..50783420hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg384061
hg194061
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995682
Samples
Known GenesGRB10
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480105
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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