A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485542



Internal ID262931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102151998..102154126hg38UCSC Ensembl
chr7:101795278..101797406hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg382129
hg192129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000177
Samples
Known GenesCUX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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