A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489260



Internal ID266549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130674280..130677037hg38UCSC Ensembl
chr7:130359120..130361877hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg382758
hg192758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003574
Samples
Known GenesTSGA13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489260
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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