A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489132



Internal ID266422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:157325162..157342524hg38UCSC Ensembl
chr7:157117856..157135218hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3817363
hg1917363
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006923
Samples
Known GenesDNAJB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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