A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438946



Internal ID217496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100616027..100727313hg38UCSC Ensembl
chr3:100334871..100446157hg19UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38111287
hg19111287
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937110
Samples
Known GenesGPR128, TFG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438946
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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