A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5619773



Internal ID21568078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133885062..133885062hg38UCSC Ensembl
chr3:133603906..133603906hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125626, nssv17129591
SamplesHG00512, NA20509
Known GenesRAB6B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5619773
Frequency
Sample Size35
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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